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Inherited Metabolic Disease > Inherited Metabolic Disease > Flashcards

Inherited Metabolic Disease Flashcards

1
Q

4 Categories of Inherited Metabolic Disease

A
  1. Single Mutation
  2. Mutation by duplication or deletion of gene
  3. Single Nucleotide polymorphism
  4. Mitochondrial gene mutation
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2
Q

Single base pair mutation or structural rearrangement of sequence of DNA

A

Single mutation

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3
Q

Copy number variation

A

Mutation by duplication

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4
Q

Most common nucleotide pleomorphism

A

wild-type

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5
Q

Non-mendelian pattern mainly maternal

A

Mitochondrial gene mutation

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6
Q

Mutation only involve single base pair

A

Point mutation

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7
Q

Affects only part of a certain cell population that plays a role in cancer and aging

A

DNA mutation of somatic cell

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8
Q

Distribution of defect

A

10 in 1000 live birthd
7 AD
2.5 AR
the rest

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9
Q

A measure of individual who will show phenotype ands expressivity

A

Penetrance

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10
Q

Penetrance is characteristic of what mendelian pattern

A

AD

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11
Q

occurs only in homozygous state where it manifest soon after birth

A

AR

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12
Q

Mutant gene affects mainly one sex

A

X-Linked

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13
Q

Female will suffer the same fare as male during the embryonal development

A

Lyon Phenomenon

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14
Q

Polygenic and complex gene and has high degrees of familial incidence

A

multifactorial genetic disease

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15
Q

Example of multifactorial genetic disease

A

Schizophrenia

Tourette Syndrome

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16
Q

Mutant mitochondrial gene arranged next to normal gene

A

heteroplasmy

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17
Q

The most common complex affected in the electron transport chain

A

Complex IV

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18
Q

Complex I involvement results to

A

Leber optic atrophy

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19
Q

Congenital lactic acidosis is a defect of:

A

Complex I

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20
Q

2 most common mitochondrial disease

A
  1. Ragged Red

2. Systemic lactic acidosis

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21
Q

What is the first definite indication of disorder of CNS

A

Seizure

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22
Q

Top 5 inborn error of metabolism

A
  1. PKU
  2. Biotinidase deficiency
  3. Very long chain Acyl DH deficiency
  4. Galactosemia
  5. Cobalamin deficiency
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23
Q

3 most common identified metabolic disease

A
  1. PKU
  2. Hyperphenylalaninemia
  3. Hypothyroidism
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24
Q

Early onset seizure in utero and auditory startle with mental retardation

A

Pyridoxine Dependent Seizure

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25
Q

diagnostic for Pyridoxine Dependent Seizure

A

Increase excretion of xanthurenic acid

Increase GABA in brain tissue

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26
Q

Gene involve in Pyridoxine Dependent Seizure

A

ALDH7A1

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27
Q

Treatment for Pyridoxine Dependent Seizure

A

50-100mg VIT B6

40mg to permit normal development

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28
Q

Neonatal with increased phenylalanine are unresponsive to measures that lowers phenylalanine, these infants has defect in:

A

Biopterin deficiency

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29
Q

Characterized by vomiting and darrhea after ingestion of milk and manifest with hypotonia automnatism and cataract

A

Galactosemia

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30
Q

What causes cataract in galactosemia

A

accumulation of galactitol

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31
Q

What protein should be restricted in propionic aciduria

A

Leucine

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32
Q

This ketotic aciduria respond to Vit B12

A

Methylmalonic aciduria

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33
Q

also known as sweaty foot syndrome with recurrent form of cerebellar ataxia

A

Isovaleric aciduria

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34
Q

Characterized by low level of all catecholamines

A

L-amino acid decarboxylase

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35
Q

What is diagnostic for non ketotic form of hyperglycemia

A

Increased glycine in CSF

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36
Q

All 6 inborn errors in urea cycles are AR inheritance except

A

Ornithine Transcarbomylase (X-linked)

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37
Q

Urea abnormality where it manifest later in childhood that progress to spastic paraplegia and MR

A

Arginase deficiency

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38
Q

What is the most consistent feature in urea cycle abnormalities

A

Presence of respiratory alkalosis

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39
Q

Associated with brittleness of hair

A

Arginosuccinic aciduria

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40
Q

Histologic findings in Inherited Hyperammonemia

A

astrocytic swelling attributable to accumulation of glutamate synthase (simulates reye syndrome)

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41
Q

Treatment for Inherited Hyperammonemias

A

Na Benzoate
Na Acetate
Arginase

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42
Q

What is deficient in Maple Syrup Urine Disease

A

Alpha Ketoglutaric acid DH

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43
Q

Diagnostic test for MSUD

A

2,4 Dihydrophenylhydralazine (DNPH)

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44
Q

Pathologic findings in MSDU

A

pallor and loss of myelin after birth

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45
Q

Treatment for MSUD

A

Dietary restriction to branched chain AA
Thiamine responsive
Episodic Dialysis

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46
Q

Treatment of Sulfite Oxide Deficiency

A

Molybdenum and lower dietary intake

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47
Q

Most common cause of neonatal seizure

A

Hypocalcemia

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48
Q

Seizure tolerance of infants secondary to hypoglycemia

A

<30 mature infant

<20mg/dl immature infant

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49
Q

What is the hallmark of all hereditary metabolic disease

A

Psychomotor regression

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50
Q

This is distinguished by a specific defect in myelin metabolism where there are massive destruction of white matter of brain

A

Leukodystorphy

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51
Q

Deficiency of enzyme necessary for degradation of specific peptide linkage in the intracytoplasmic lysosomes

A

Lysosomal Storage Disease

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52
Q

Class of intracellular lipid that is bound to ceramide

A

Sphingolipidoses

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53
Q

GM2 Gangliosidaosis

A

Tay Sachs Disease

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54
Q

What is the enzyme deficiency in Tay Sachs Disease

A

Hexosaminidase A

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55
Q

Manifestation of Tay Sachs Disease

A 
Cherry red spot
Abnormal Startle
Tonic clonic seizure
dementia
blindness
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56
Q

EEG findings in Tay Sachs Disease

A

paroxysmal slow wave with multiple spike

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57
Q

This occurs in non-jewsug children similar to tay sach except for increased lipid storage

A

Sandhoff disease

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58
Q

What is deficient in Sandhoff disease

A

B-hexosaminidase A and B

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59
Q

What enzyme is deficient in Gaucher’s Disease

A

Glucocerebrosidase deficiency

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60
Q

Prognosis of gauchers disease

A

90% do not survive beyond 2 years old

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61
Q

What is diagnostic in Gaucher’s disease

A

Serum acid phosphatase

Gauchers cell found in lung and marrows

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62
Q

Types of Gauchers

A

Gauchers Type I - non neuropathic/benign
Gauchers Type II - Infantile form
Gauchers Type III - neuronopathic form

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63
Q

What is highly clinical feature of Gauchers Type III

A

Impaired lateral gaze with intact dolls eye

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64
Q

This occurs 3-9 months begins as enlargement of liver spleen and LN

A

Niemann Pick

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65
Q

Pathologic findings in Niemann Picks

A

Foam Cells

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66
Q

Described Foam cells

A

Vacuolated blood lymphocytes

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67
Q

Infantile GM1 Gangliosidosis enzyme deficiency

A

B-Galactosidase deficiency

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68
Q

This is characterized by dysmoprhic facial feature but lacks psychomotor developmental delay with loss of vision and coarse nystagmus

A

Infantile GM1 Gangliosidosis

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69
Q

What is the radiographic findings in Infantile GM1 Gangliosidosis

A

Subperiostal bone formation

Midshaft widening and demineralization

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70
Q

Krabbe disease is characterized by deficiency of what enzyme

A

Galactocerebrosidase (GALC mutation)

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71
Q

Imaging findings of Krabbe Disease

A

Increase signal in the internal capsule and basal ganglia

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72
Q

What is the NCV findings of patient with galactosidase deficiency

A

Demyelinating polyneuropathy

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73
Q

This result to early destruction of oligodendrocytes and deplete lipids in the white matter

A

Psychosine

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74
Q

Function of Galactocebrosidase

A

degrades galactcerebrosidase to cerebroside to galactose

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75
Q

Globoid cell Reaction is seen in what disease

A

Krabbe Disease

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76
Q

This result from impaired catabolism of galactosyl ceramide and characterized by large histiocytic containing accumulated metabolite

A

Globoid Cell

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77
Q

Treatment of Krabbe Disease

A

Transplanted Umbilical hematopoietic cell

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78
Q

This occur in the setting of normal development and triggered by infection causing progressive encephalopathy punctuated by rapid deterioration

A

Vanishing White Matter Disease

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79
Q

Genetic Defect in Vanishing white matter disease

A

CIF2B

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80
Q

What is the genetic mutation of Farber Disease

A

ASAH1

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81
Q

What is the characteristic clinical findings of Farber Disease

A

Periarticular and subcutaneous swelling and progressive arthropathy

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82
Q

What is enzyme deficient in Farber disease

A

Ceramidase deficiency

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83
Q

Clinical Manifestation of Pelizaeus Merzbacher

A

Pendular nystagmus
Spastic weakness
Optic atrophy

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84
Q

Pathologic findings of Pelizaeus Merzbacher

A

Tigroid pattern

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85
Q

pattern of inheritance of Pelizaeus Merzbacher

A

X-Linked

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86
Q

This is characterized by regression of psychomotor function, enlarged head, SNHL and Blond hair and light complexion

A

Canavan Disease (Spongy degeneration of infancy)

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87
Q

Diagnostic for Spongy degeneration of infancy

A

Increased urinary of NAA

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88
Q

What is mutation in patient with Alexanders Disease

A

GFAP

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89
Q

Characteristic histopathologic findings in Alexanders disease

A

Rosenthal fiber

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90
Q

These are pial degradation products with eosinophilic dyaline border seen around the blood vessel

A

Rosenthal fiber

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91
Q

This is a progressive disease of gray matter (poliodystrophy)

A

Alper disease

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92
Q

This is characterized by sweating attacks, microcephaly and late onset jaundice

A

Alpers disease

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93
Q

CT Scan findings of Alper disease

A

Progressive atrophy specifically occipital lobe

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94
Q

Pathological findings in Alpers Disease

A

Walnut Brain

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95
Q

What are the diagnostic result in congenital lactic acidosis

A

Acidosis with an anion gap and increased serum lactate

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96
Q

This disease is characterized by hypotonia, stippled and irrgular calcification of patella and greater trochanter

A

Cerebrohepatorenal Disease (Zellweger)

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97
Q

Outcome of Zellweger disease

A

Dies in 1 month

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98
Q

Biochemical findings of Zellweger disease

A

Elevated long chain fatty acid

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99
Q

Pattern of inhertitance of oculocerebrorenal syndrome

A

X-Linked

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100
Q

What chromosome is abnormal in oculocerebrorenal syndrome

A

Xq25.26

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101
Q

oculocerebrorenal syndrome key features

A

Bilateral cataracts
Glaucoma
Megalocornea

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102
Q

What is the primary genetic defect of oculocerebrorenal syndrome

A

inositol phosphate phosphatase of Golgi Complex

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103
Q

This is characterized by premature birth and temperature instability

A

Menkes Disease

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104
Q

What is the highly clinical feature of Kinky or Steely hair disease

A

Depigmentation and felt like steel wool that it breaks easily (pili torti)

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105
Q

Characteristic arteriography findings of Menkes disease

A

tortuosity and elongation of cerebral and systemic vessel

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106
Q

What is the gene defect pf Menkes Disease

A

ATP7A

failure of absorption of copper from GIT

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107
Q

Pattern of inheritance of Menkes Disease

A

X-linked recessive

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108
Q

Treatment of Menkes Disease

A

Cupric Salt

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109
Q

Disease with rapid pendular nystagmus

A

Pelizaeus Merzbach
Krabbe
Cockayne

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110
Q

Diseases that presents with Macular Cherry red spot (3)

A

Tay Sachs
Sandhoff
Niemman

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111
Q

Corneal Opacifications are seen in these diseases (3)

A

Lowe
Infantile GM1
MPS

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112
Q

Cataract are seen in these diseases (3)

A

Lowe
Galactosemia
Zellwegers

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113
Q

If patient presents with dysmorphic facial feature what test should be given to differentiate between MPS and Oligosaccharidoses

A

Urinary Berry Spot Test
MPS (+)
Oligosaccharidoses (-)

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114
Q

If the Urinary Berry test is (+) what is the next feature to ask

A

Presence of developmental delay

if (-) Schei, Morquio and Manteaoux Landy

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115
Q

What additional test should be given if the child is negative for Urinary Berry Spot Test

A

Test for urinary salic acid secretion

if elevated: Mucolipidosis I II III and GM1 Gangliodosis

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116
Q

(+) urinary berry spot test with developmental delay?

A 
Hurler
Hurler Schei 
Hunter
San Filipo
B-Glucronidase
MucoSaulfatidosis
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117
Q

These conditions will present as visceromegaly

A

Niemann Pick
Gaucher
Pompe
Farber

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118
Q

What is the enzyme deficient in PKU

A

Phenylalaniune Hydroxylase Deficiency

119
Q

What are the 3 characteristics of PKU

A
  1. Mental retardation is invariable
  2. Other elevated Phenylalanine without PKU may have no CNS involvement
  3. Progressive spastic paraplegia - rare adult type without neurologic manifestation
120
Q

What causes the musty odor of urine

A

Phenylacetic acid

121
Q

What are the biochemical derangement in PKU

A

elevated phenylalanine >15m/d

elevated phenylpyruvic in blood and CSF

122
Q

What is the screening used in PKU

A

Ferric Chloride
if (+) emerald green - PKU
if (+) navy blue - MSUD

123
Q

Treatment for PKU

A 
dietary restriction (maintain blood levels 5-10mg/dl)
If restriction might go to retardation which can be ameliorated by biopterin
124
Q

This is a dermatologic aminoacidopathy causing mental retardation, lacrimation, plantar and palmar hyperhidrosis and photophobia

A

Hereditary Tyrosinemia

125
Q

Treatment for Tyrosinemia

A

Low tyrosine diet and PA diet

Retonoids improve skin lesion

126
Q

What enzyme causes severe form of Tyrosinemia

A

Fumarylacetoacetate hydrolase

127
Q

This takes a form of encephalopathy with fluctuating EPS with ocular and vegetative symptoms

A

Tyrosine Hydroxylase deficiency

128
Q

Treatment for Tyrosine Hydroxylase deficiency

A

L-Dopa

129
Q

This condition is characterized by red scaly rash over theface and episodes of cerebellar ataxia precipitated by sun exposure and emotional stress

A

Hartnup Disease

130
Q

What gene is mutated in Hartnup disease

A

SLCGA19

131
Q

What is the biochemical defect in Hartnup Disease

A

Transport error of neutral AA across the tubule , excretion is increased in feces and urine mainly indoxyl sulfate

132
Q

What are the management of Hartnup Disease

A

Nicotanamide
L-Tryptophan
Avoid exposure to sunlight and sulfonamide

133
Q

This is characterized by agenesis of cerebellum with or without MR and hypoventilation

A

Joubert Syndrome

134
Q

Cerebellar ataxia with cataract and oligophrenia

A

Marihesco-Sjogren Disease

135
Q

Familial cerebellar ataxia with retinal degeneration

A

Behr Disease

136
Q

This disease is characterized by impaired motor (spastic and ataxic) with reduced output of speech, grayish degeneration of macula and MR

A

Metachromatic Leukodystrophy

137
Q

What enzyme is mutated in MLD

A

Aryl Sulfatase

138
Q

What is the function of Arly Sufatase

A

convert sulfatide to cerebroside

139
Q

Two type of MLD

A
  1. O-type - lack of gene product
  2. R-type - low level
    infantile - 2 O type
    juvenile - either R or O
    Adult - 2 R type
140
Q

Diagnostic feature of MLD

A

Metachromatic granule and enhance macrophage

141
Q

This is characterized by MR, hypotonia , progressive blindness and optic atrophy

A

Neuroaxonal dystrophy

142
Q

Histopathologic findings of neuroaxonal dystrophy

A

Swollen axoplasm in posterior column and nucleus of Goll and Burdach, cerebellar atrophy affecting granule cell layer

143
Q

MRI findings of Neuroaxonal dystrophy

A

Signal intensity to pallidum (iron deposit)

144
Q

Gene defective in Neuroaxonal dystrophy

A

PLA2G6

145
Q

Key feature of late infantile-early childhood Niemann Pick Disease

A

Paralysis of horizontal and vertical gaze

146
Q

This is characterized by motor and MR, grayish macular degeneration and posterior column degeneration

A

Sea-blue histiocytes

147
Q

Histologic feature of Sea Blue Histiocytes

A

Vacuolated macrophage and sea blue histiocytes

148
Q

Radiologic findings of Late infantile-CHildhood GM1 gangliosidosis

A

Mild hypoplasia of the thoracolubar vertebral border and acetabulum

149
Q

Late infantile-cHildhood GM1 gangliosidosis is what type

A

Type II

150
Q

4 Types of Neuronal Ceroid Lipofuscinoses (Batten Disease)

A
  1. Santavuiori-Haltia Finnish - infantile
  2. Jansky - Bielchowsky - early childhood
  3. Vogt-Spielmeyer - juvenile
  4. Kuf - adult
151
Q

All types of Neuronal Ceroid Lipofuscinosis are AR, except

A

Kuf

152
Q

Characterized by retinal changes and EEG findings

A

Santavuiori-Haltia Finnish

153
Q

Characteristic EEG findings of Santavuiori-Haltia Finnish

A

Spike and slow wave progressing to isoelectric

154
Q

What is diagnostic feature of Jansky - Bielchowsky

A

Presence of C-fragment

155
Q

what is the abnormal inclusion of Jansky - Bielchowsky

A

Azurophilic granules

156
Q

Characterized by myoclonic jerk evoked by sensory stimuli, inccordination dementia and mutism with retinal degeneration

A

Jansky - Bielchowsky

157
Q

This group of disorder is characterized by neurologic and skeletal abnormality secondary to hyperplastic connective tissue at the base of the brain

A

MPS

158
Q

All MPS are AR, except

A

Hunter (X-Linked)

159
Q

This is characterized by enlarge liver and spleen with gargoyle facie, conductive hearing loss and MR

A

Hurler Disease

160
Q

What enzyme is deficient in Hurler

A

A-L-Iduronidase

accumulation of Dermatan and heparan sulfate

161
Q

Treatment for Hurler

A 
BM transplant
Enzyme replacement (Iaronidase)
162
Q

This disease has a deficient in iduronate sulfatase causing increased urinary dermatan and heparan

A

Hunter

163
Q

What is the characteristic feature of Hunter

A

Absence of corneal clouding and less MR

164
Q

This is characterized by dwarfism and osteoporosis and with high risk of SCI due to hypoplasia of odontoid process

A

Morquio Disease

165
Q

What is the enzyme deficient in Maroteaux-Lax disease

A

Argylsulfatase B deficiency

166
Q

This is characterized by cervical pachymeningitis with SC compression and severe skeletal abnormality with NORMAL intelligence

A

Maroteaux-Lax disease (MPS VI)

167
Q

This is similar to Hurler that has increased excretion of urinary dermatan and heparan

A

Sly disease

B-Glucoronidase deficiency

168
Q

What are the 4 types of Mucoliposis

A
  1. Lipomucopolysaccharidosis
  2. I-Cell
  3. Pseudohurler polydystrophy
  4. Mucoliposis IV
169
Q

This type of Mucolipidosis is the most common type

A

Type II (I-cell)

170
Q

This type of Mucolipidosis has an onset of 2 years old with growth retardation and opacification and VHD

A

Mucolipidosis Type III

171
Q

Described as refactile cytoplasmic granule

A

I-cell

172
Q

This type of mucolipidosis is characterized by gargoylism, MR and cherry red spot

A

Type I (Lipomucopolysaccharidosis)

173
Q

This is a hunter-like facies with hearing loss and spoke like opacities of lens where age of onset is 2 years old

A

Mannosidoses

174
Q

What is the characteristic radiographic findings of Mannosidosis

A

beaking of vertebral body

175
Q

This is an autosomal recessive inheritance presenting as spastic quadriplegia and decrebrate posturing and death at 4-6 years. May also manifest with enlarged salivary gland

A

Fucidosis

176
Q

What is the characteristic dermatologic findings in Fucidosis

A

Angiokeratoma Corporis diffusum

177
Q

What substance accumulates in fucidosis

A

lysosomal sphingolipids
Oligosacharrides
Glycoproteins

178
Q

This is characterized by early onset psychomotor regreession, dementia and corticospinal signs and retinal abnormalities

A

Aspartylglycosaminuria

179
Q

What gene is mutated in Cockayne Syndrome

A

Gene that mediate DNA repair

180
Q

Imaging findings of Cockayne Syndrome

A

Calcification of Basal Ganglia

181
Q

Ocular apraxia is seen in these diseases

A

Ataxia Telangiectasia

Niemanns Pick

182
Q

This condition can be exlcuded in the presence of normal CHON CSF, Normal NCV and biochemical studies

A

MLD

183
Q

This condition requires sequencing test mitochondrial genome and CT scan that present with hypodensity in basal ganglia

A

Leigh Disease

184
Q

This condition is considered as degenerative but AR inheritance characterized by steatorrhea, retinal degeneration with acanthocyctic deformity of RBC

A

Bassen-Kornzweig Acanthocytosis

185
Q

Bssen-Kornzweig Acanthocytosis a.k.a

A

abetalipoproteinemia

186
Q

Diagnostic for Bassen-Kornzweig Acanthocytosis

A

Spiky or thorny RBC
Low ESR
Low LDL

187
Q

Pathologic Findings of Bassen-Kornzweig Acanthocytosis

A

Foamy vacuolated epithelial cells
Diminished purkinje, AHC and fibers of heart
VIT E deficiency

188
Q

what will trigger the attacks in Bassen-Kornzweig Acanthocytosis

A

administration of low fat diet and high dose of VIT A and E

189
Q

This condition is characterized by progressive muscle atrophy, acanthocytosis of RBC due to abnormality in surface Kell Antigen

A

Mcleod Syndrome

190
Q

What is HARP syndrome

A

Hypocholesterol
Acanthocytosis
Retinitis Pigmentosa
Pallidal Atrophy

191
Q

Pattern of inheritance of Familial Hypobetalipoproteinemia

A

AD

192
Q

treatment for Familial Hypobetalipoproteinemia

A

Fat restriction and Vit E

193
Q

Characterized by arrhythmic twitches of part of muscles(15-50s) considered as syndrome of gray matter diseases

A

Familial Polymyoclonus

194
Q

This is characterized by myoclonus affecting both sexes with normal development with rapid eye movement and irregular movement

A

Myoclonic encephalopathy of infants (Infantile opsoclonus-myoclonus syndrome)

195
Q

Treatment for Infantile opsoclonus-myoclonus syndrome

A

Dexamethasone

Corticosteroids

196
Q

laboratory findings of Infantile opsoclonus-myoclonus syndrome

A

Low level of 5-HT and HVA

thus, respond to 5-hydroxyindole acetic acid

197
Q

This condition starts with seizure, myoclonic jerk triggered by noise and tactile stimulation with cerebellar ataxia

A

Lafora Body polymyoclonus with epilepsy

198
Q

Age of onset of Lafora-body

A

11-18 years old

199
Q

EEG findings of Lafora Body polymyoclonus

A

diffuse slow wave with burst of focal and multifocal discharge

200
Q

AED of choice in Ladfora Body Polymyoclonus

A

Methusuximide

Valproic Acide

201
Q

This is characterized by severe myoclonus, seizure and visual loss

A

Juvenile Ceroid Lipofuscinosis

202
Q

In Juvenile Ceroid Lipofuscinosis, life ends at what age

A

10-15 years

203
Q

What is the first lesion seen in uvenile Ceroid Lipofuscinosis

A

yellow gray area of degeneration in maculae

204
Q

EEG findings of Juvenile Ceroid Lipofuscinosis

A

High voltage triphasic wave then delta predominate

205
Q

What is the characteristic diagnostic confirmation of Juvenile Ceroid Lipofuscinosis

A

Inclusion of curvilinear with finger print pattern in EM

206
Q

What differentiate Juvenile Ceroid Lipofuscinosis from Late Juvenile Ceroid Lipofuscinosis

A

presence of personality change and dementia in adult form

207
Q

What gene is mutated in Late Juvenile Ceroid Lipofuscinosis

A

CLN 1 and 9

208
Q

What enzyme is deficient in Sialidosis Type I

A

A-Neuraminidase Deficiency

209
Q

Characterized by cherry red spot and episodic pain in hand and legs with polymyoclonus and cerebellar ataxia

A

Sialidosis Type I

210
Q

This condition is characterized by degeneration of cerebellar dentate efferent system

A

Dentatorubral cerebellar atrophy with polymyoclonus

211
Q

What is the pattern of inheritance of Dentatorubral cerebellar atrophy with polymyoclonus

A

Mitochondrial

212
Q

Location of polymyoclonus of Dentatorubral cerebellar atrophy with polymyoclonus

A

Facial and bulbar muscle only

213
Q

What is pathognomonic of Hepatolenticular degeneration

A

Katser Fleischer Ring

214
Q

What is chelating agent of Wilsons Disease

A

BAL

215
Q

What gene is mutated in Hepatolenticular degeneration

A

ATP7B

216
Q

What are the disturbances in copper metabolism in Wilson Disease

A
  1. Reduce rate of incorportion of copper into ceruloplasmin

2. Reduction in biliary excretion of copper

217
Q

Age of onset of Wilson disease

A

2nd-3rd decade of life

218
Q

This is the initial manifestation of Wilson Disease

A

EPS with proclivity of oropharngeal muscle and mouth held open “Vacuous smile”

219
Q

What layer does copper deposits in Kayser Fleischer RIng

A

Descement Membrane

220
Q

Confirmatory diagnosis of Wilson Disease

A

Liver biopsy with copper deposition (>200mg/cm of dry) and failure to incorporate label CU to ceruplasmin

221
Q

MRI findings of Wilson Disease

A

T2 changes in laminar pattern;

T1 signal abnormality in putamen

222
Q

Pathologic findings of Wilson Disease

A
  1. Cavitation of lenticular nuclei

2. Hyperplasia of protoplasmic Astrocytes

223
Q

Treatment of Wilson Disease

A

Reduction of dietary Copper
Chelating agent (D-penicillamine)
Liver Transplant

224
Q

What should be given to penicillamine to avoid anemia

A

Pyridoxine

225
Q

This condition is characterized by idiopathic progressive myelopathy of lateral column simulate Degeneration of Vit B12

A

Hypocupric Myelopathy

226
Q

Hypocupric Myelopathy responds to

A

Zinc

227
Q

This condition is characterized by Pigmentary degeneration of globus pallidus

A

Hallervorden Spatz

228
Q

What gene is mutated in Hallervorden Spatz

A

Panthothenate Kinase 2 (PANK-2)

229
Q

What are the key features of Hallervorden Spatz

A

CST (motor)
EPS
MR

230
Q

MRI findings of Hallervorden spatz

A

T2 weighted rim pallidal with white in its medial part with zone of necrosis
“eye of the tiger”

231
Q

This condition is described as choreoathetosis with self-mutilation and hyperuricemia

A

Lesch-Nyhan Syndrome

232
Q

What defect is affected in Lesch-Nyhan Syndrome

A

Xq26-q27 defect in hypoxanthine guanine phosporyl transferase

233
Q

Treatment of Lesch-Nyhan Syndrome

A

Xantine oxidase inhibitor

234
Q

What medication that will suppress mutilation

A

5-hydroxytryptophan

235
Q

Chromosome involved in Fahr Disease

A

Chr 14q

236
Q

This organ causes end organ insensitivity to parathyroid hormone with distinctive and developmental abnormality

A

Hypoparathyroidism

237
Q

What differentiate hypoparathyroidism to pseydopseudohypothyroidism

A

Normal calcium metabolism

normal neurologic manifestation

238
Q

This is characterized by calcification of caudate, lenticular nuclei thalamus and frontal lobe with osteopetrosis and multiple craniopathies

A

Osteopetrosis

239
Q

What is deficiency in Osteopetrosis

A

Carbonic Anhydrase II in RBC

240
Q

Gene mutated in Osteopetrosis

A

CLCN7

241
Q

This condition will manifest as progressive choreathetosis dystonia with acidemia

A

Glutaric acidemia

242
Q

What is the enzyme involved in Glutaric acidemia

A

Glutaryl COA DH

243
Q

Treatment for glutaric acidemia

A

Low CHON

Trytophan and Lysine

244
Q

This is an X-Linked recessive with impaired perixosomal oxidation of VLCFA that accumulates in the brain and adrenal

A

Adrenoleukodystrophy

245
Q

What chromosome is mutated in ALD

A

Chr X28

246
Q

Age of onset of VLCFA

A

4-8 years old

247
Q

Clinical Syndrome of ALD

A 
Browning of hands
Quadriparesis
Seizure
Decerebrate
Cortical Blindness
248
Q

Biochemical and Clinical criteria of ALD

A
  1. A progressive degeneration of cerebral whitematter in young males 1/2
  2. Intermediate form of cerebral and spinal involvement 5%
  3. Progressive spinal tract degeneration 25%
  4. Chronic mild non progressive spastic paraparesis 10%
  5. Familial instances of Addisons without neurologic involvement 10%
  6. Form of originating at birth particularly male
249
Q

Laboratory findings of ALD

A

Excess VLCFA
Decreased NA. K, Cl - atrophy of Adrenal gland
Decreased Serum Cortisol
Elevated CSF CHON

250
Q

Treatment for ALD

A

Adrenal replacement
Enriched MUFA
BM transplant

251
Q

non-MLF occurring sporadically with cerebellar ataxia and dementia

A

Orthochromatic Leukodystrophy

252
Q

This condition is characterized by Cataracts and xanthosis of tendon sheath and lungs occurring late childhood

A

Cerebrotendinous xanthomatosis

253
Q

Masses of crystalline of cholesterol in Brainstem cerebellum and spinal cord

A

Cerebrotendinous xanthomatosis

254
Q

Gene mutated inCerebrotendinous xanthomatosis

A

CYP27A

255
Q

What result to xanthomatosis deposit of cholesterol in Cerebrotendinous xanthomatosis

A

Defect in primary bile acid synthesis and increased hepatic production of cholesterol

256
Q

Treatment for Cerebrotendinous xanthomatosis

A

Chenodeoxycholic acid

257
Q

This condition is chatracterized by tall, high arched slender with arachnodactyly and dislocation of lenses

A

Homocystinuria

258
Q

What is the direction of dislocation of lenses in Homocystinuria

A

downward

259
Q

What is the mechanism of stroke in Homocystinuria

A

abnormal platelet clotting favors thrombosis

260
Q

Laboratory findings of Homocystinuria

A

Increase Homocytine and Methionine

Decreased Cystathione

261
Q

Treatment fr Homocystinuria

A

Large Dose of pyridoxine
Folate
Cobalamine

262
Q

This condition is characterized by childhood onset of lancinating pain and dysesthesia of the extremities evoke by fever hot weather and exercise

A

Fabry Disease

263
Q

Other name for Fabry Disease

A

Andersen-Fabry disease

264
Q

Dearmatologic feature of Fabry

A

Angiokeratoma corporis diffusum

265
Q

What is deficient in Fabry Disease

A

Alpha galactosidase A

accumulation of ceramide trihexoside

266
Q

Mechanism of stroke in Fabry Disease

A

Occurs in adulthood with confluent of cerebral white matter changes

267
Q

This is prominent in periumbilically and resembles with angioma that obliterate with slight pressure

A

Angiokeratoma

268
Q

Treatment for Fabry Disease

A

Enzyme replacement

269
Q

Top 3 diseases where intellect as a manifestation of inherited metabolic disease (in order)

A

Wilson
ALD
MLD

270
Q

What structures are severely involved in leukodystrophy

A

CST
Cerebellar peduncle
Sensory
Optic Nerve

271
Q

What structures are severely involved in poliodystrophy

A

Myoclonus
Dementia
Retinal lesion

272
Q

Involvement of both gray and white matter

A

Galactolipids

Gangliosides

273
Q

These diseases involves bilateral symmetrical diffuse deep hemisphere

A

CADASIL
Susac
Lymphoma
Gliomatosis Cerebri

274
Q

This is a subsarcollemal intermyofibrillar collection of membranous material in Type I muscle Fiber

A

Ragged Red Fiber

275
Q

What is the stain for Ragged Red Fiber

A

Gomori Trichrome

276
Q

What is the unifying feature of mitochondrial disease

A

Elevation of pyruvate or lactate to pyruvate ratio

277
Q

What is the mildest form of muscle disorder caused by mitochondrial disease

A

Mitochondrial Myopathies

278
Q

Pattern of weakness weakness of mitochondrial myopathy

A

static proximal weakness

279
Q

Mutation of mitochondrial myopathies

A

3250

280
Q

Pathology of mitochondrial myopathy

A

(+) ragged red fiber

281
Q

Progressive ptosis and ophthalmoplegia and retinitis pigmentosa

A

Kearn Sayre Syndrome

282
Q

This disorder is characterized by symptoms are precipitated by febrile illness with generalized seizure, myoclonic seizure, ataxia and delayed walking

A

Leigh Syndrome

283
Q

What is mutation involved in Leigh Disease

A

8993

RANBP3

284
Q

RANBP3 codes for

A

nuclear pore

285
Q

What is mutated Gene NARP

A

8993

286
Q

What is deficient in NARP syndrome

A

Pyruvate decarboxylase

Pyruvate deficiency

287
Q

This condition is characterized by psychomotor regression, hypotonia and convulsion associated with deletion of mitochondrial DNA

A

Congenital Lactic Acidosis Recurrent Ketoacidosis

288
Q

Pathology of Congenital Lactic Acidosis Recurrent Ketoacidosis

A

Ragged Red Fiber

289
Q

This condition is characterized by progressive epilepst and myoclonus

A

Myoclonic epilepsy with ragged red

290
Q

Myoclonic epilepsy with ragged red age of onset

A

60 years old

291
Q

Gene mutated in Myoclonic epilepsy with ragged red

A

8344

292
Q

What is highly suggestive of mitochondrial disorder

A

Unexplained onset of diabetes and deafness

293
Q

Histopathologic findings in Leigh Disease

A

Bilateral symmetrical spongy neuronal myelin degenera

294
Q

NARO stands for

A

Neuropathy Ataxia and Retinitis Pigmentosa

Inherited Metabolic Disease (1 decks)

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