Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

🧠📖💯 > Inherited Metabolic Diseases > Flashcards

Inherited Metabolic Diseases Flashcards

1
Q

Which is the most common pattern of inheritance among monogenic diseases?

a) Dominant
b) Recessive
c) Sex-linked

A

a) Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Usually cause manifest disease in heterozygotes

A) Autosomal Dominant
B) Autosomal Recessive
C) X-Linked

A

A) Autosomal Dominant

AD - heterozygotes
AR - homozygotes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Variable degrees of penetrance and expressivity

A) Autosomal Dominant
B) Autosomal Recessive
C) X-Linked

A

A) Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Onset soon after birth

A) Autosomal Dominant
B) Autosomal Recessive
C) X-Linked

A

B) Autosomal Recessive

AD - long after birth
AR - soon after birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

“Female will suffer same fate as male if one X chromosome has been inactivated”

____ phenomenon

A

Lyon Phenomenon

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Enzyme abnormality

A) Autosomal Dominant
B) Autosomal Recessive
C) X-Linked

A

B) Autosomal Recessive

Enzyme abnormality - AR
Protein abnormality - X-linked

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Which of the following is TRUE of mitochondrial DNA inheritance?

a) Mitochondrial DNA can recombine, so that mutations through maternal lines are not accumulated
b) Replication and distribution of mDNA during cell division follows the nuclear mitotic cycle
c) Genetic error is often a single-point mutation -> alteration of a single amino acid
d) Uniform expression of mitochondrial mutations in different tissues and regions of the NS

A

TRUE: c) Genetic error is often a single-point mutation -> alteration of a single amino acid

  • Mitochondrial DNA canNOT recombine, so that mutations through maternal lines are actually accumulated
  • Replication and distribution of mDNA during cell division DOES NOT follow the nuclear mitotic cycle
  • VARIABLE expression of mitochondrial mutations in different tissues and regions of the NS
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Most mitochondrial genes code for proteins in the respiratory chain. Which part is the one most often disordered?

A

Complex IV: cytochrome-c oxidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the “two characteristics traceable to mitochondrial abnormalities?”

A
  1. Ragged red fibers

2. Systemic lactic acidosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

“First hint of trouble” in neonates w/ metabolic disease may be _____

A

feeding difficulties

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

“First definite indication” of disordered NS function in neonates w/ metabolic disease

A

Seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are the 3 “most important/reliable indices of brain abnormality in neonates w/ metabolic disease”?

A
  1. Hyperkinetic-hypertonic
  2. Apathetic-hypotonic
  3. Unilateral or hemisyndromic

If w/ 1 of the above, 2/3 chances that neuro sx appear by year 7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the most common neonatal metabolic disease?

a) Biotinidase deficiency
b) Phenylketonuria
c) VLC acyl CoA dehydrogenase
d) Galactosemia
e) Cobalamin

A

b) Phenylketonuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the gene involved in pyridoxine-dependent seizures?

A

ALDH7A1 gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Treatment for biopterin deficiency

A

Tetrahydrobiopterin (BH4)

Low-phenylalanine diet

(BH4 is a cofactor of phenylalanine)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Mutation in Biopterin deficiency?

A

Tetrahydrobiopterin (BH4)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Galactosemia is caused by a a defect in?

A

galactose-1-phosphate uridyl transferase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Nonketotic acidurias of infancy are known to have more devastating effects on the nervous system. They are a/w elevation of what component in the CSF?

A

Elevation of CSF glycine

Tx:
Na benzoate, dextrometorphan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

All inherited hyperammonemias are autosomal recessive EXCEPT?

  1. N-acetyl glutamate synthetase
  2. Carbamoyl phosphate synthetase (CPS)
  3. Ornithine transcarbamylase (OTC)
  4. Argininosuccinic acid synthetase (citrullinemia)
  5. Argininosuccinase deficiency
  6. Arginase deficiency
A

Ornithine transcarbamylase (X-linked)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Appears during later childhood as progressive spastic paraplegia + MR

  1. N-acetyl glutamate synthetase
  2. Carbamoyl phosphate synthetase (CPS)
  3. Ornithine transcarbamylase (OTC)
  4. Argininosuccinic acid synthetase (citrullinemia)
  5. Argininosuccinase deficiency
  6. Arginase deficiency
A

Arginase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Histologic finding in inherited hyperammonemia?

A

Astrocytic swelling

*2/2 accumulation of glutamate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Deficiency in branched-chain aminoacidopathies?

A

a-keto acid dehydrogenase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Branched chain aminoacidopathies have highest incidence in which populations?

A

Amish
Mennonite
Jewish

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Sugar levels in infants that cause seizures

a) Mature
b) Premature

A

Mature - < 30 mg/dL

Premature - < 20 mg/dL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Hallmark of hereditary metabolic diseases of infancy

A

Failure to achieve psychosensorimotor milestones

Regression of previously attained behaviors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is the primary deficiency in GM1 gangliosidosis?

A

B-Galactosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is the primary deficiency in GM2 gangliosidosis?

A

Tay Sachs - N-acetylhexosaminidase a subunit

Sandhoff - N-acetylhexosaminidase B subunit

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is the primary deficiency in Metachromatic leukodystrophy?

A

Arysulfatase A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What is the primary deficiency in Krabbe disease?

A

Galactocerebrosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What is the primary deficiency in Fabry disease

A

a-Galactosidase A

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is the primary deficiency in Gaucher disease?

A

Glucocerebrosidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is the primary deficiency in Niemann-Pick disease?

Types A & B
Type C

A

Type A&B - Sphingomyelinase

Type C - Cholesterol esterification

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Diseases displaying a cherry-red macular spot

A

Go Get Some M F Cherries, Niemann

GM1 GM2 gangliosidosis
Sialidosis
Metachromatic leukodystrophy
Farber
Ceroid (Neuronal Ceroid Lipofuscinosis), late infantile
Niemann Pick A-D
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Which of the ff diseases in “Go Get Some M F Cherries, Niemann” does not actually have a true cherry-red spot?

A

Neuronal Ceroid Lipofuscinosis, late infantile form

“Bull’s-eye maculopathy”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Which of the following is NOT true of Tay-Sachs disease?

a) Autosomal recessive
b) Common in Ashkenazi Jews
c) Deficiency of beta hexosaminidase A
d) Accumulation of GM1 ganglioside
e) (+) Cherry red spot w/ optic atrophy
f) EEG is abnormal in early stages
g) Brain doubles in weight

A

d) Accumulation of GM1 ganglioside

Accumulation of GM2 ganglioside

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Which of the following is TRUE regarding Tay Sachs and Sandhoff disease?

a) Both affect patients of Jewish origin
b) Tay-Sachs presents with visceral lipid storage
c) Sandhoff Disease has a deficiency of hexosaminidase A and B
d) None of the above

A

c) Sandhoff Disease has a deficiency of hexosaminidase A and B

Sandhoff affects infants of NON-Jewish origins (unlike TS)

Visceral lipid storage is found in Sandhoff Disease, not TS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Which type of Gaucher is non-neuronopathic?

A

Type I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Match:

  1. Gaucher Disease
  2. Niemann-Pick Disease

a. Vertical gaze impariment
b. Lateral gaze impairment

A

Gaucher - LATERAL gaze impairment (Gaulat)

Niemann-Pick - VERTICAL gaze impairment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Which of the following is NOT true of Niemann-Pick Disease?

a) Type A disease is the usual
b) Foamy histiocytes
c) Blindness and amaurotic nystagmus are symptoms, along w CRSpot
d) Ashkenazi Jewish, AR
e) None of the above

A

e) None of the above

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Which of the following is NOT true of Generalized GM1 Gangliosidosis?

a) Dysmorphic facial features (Pseudo-hurlers)
b) Pseudocontractures
c) GM 2 Ganglioside accumulation
d) Hypoplasia and beaking of thoracolumbar vertebrae

A

c) GM 2 Ganglioside accumulation

GM1!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Clinical symptoms of Krabbe Disease / Globoid Cell Leukodystrophy?

A

GOT B

Generalized rigidity
Opisthotonus (neck, trunk)
Tendon reflexes depressed

Blindness, Optic atrophy

  • deaf also
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

The biochemical pathology in Krabbe Disease involves which cells?

A

Oligodendrocytes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Pathologic findings in Krabbe Disease

A

White matter - marked reduction

Myelin - degeneration

Globoid cells (large histiocytes)

Schwann cells - w/ tubular/crystalloid inclusions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What is the mutation in Farber Disease?

A

ASAH1 mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

What are the symptoms of Farber disease?

A

Hoarse cry, respiratory distress
Ankylosis
Severe psychomotor delay

Naglakad from far away…. pagod

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Tigroid Pattern

A

Degenerated and intact myelin (cerebrum)

Pelizaeus-Merzbacher Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Mutation in Canavan Disease

A

ASPA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

AR, Aminoacylase II deficiency (NAA breakdown)

Rapid regression of psychomotor function

Macrocephaly, blindness, hearing loss
Blonde hair, light complexion

Increased urinary excretion of NAA
WM attenuation, enlarged brain w/ normal ventricles

Loss of purkinje cells, hyperplasia of Alzheimer II astrocytes

A

Canavan Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

AD, GFAP mutation

PM retardation
Spasticity
Seizures
Macrocephaly

Rosenthal fibers
Destructive WM changes, particularly in frontal lobes

A

Alexander Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

AR, PLOG mutation

Loss of smile, disinterest
Seizures, diffuse myoclonic jerks
Microcephaly
Blindness

Trichorrhexis nodosa

Walnut brain
Spongiform vacuolization of GM

A

Alpers Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Peroxisomal disorder
Mutation: PEX1

Dysmorphic features
Multifocal seizures
Cataracts, corneal clouding
Stippled, irregular calcifications of patellae and greater trochanters

Liver & renal dysfunction

A

Zellweger Disease

Cerebrohepatorenal Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q 
Sex-linked recessive trait
A/w premature birth
Temperature instability
Seizures
Pili torti (hair breaks easily and twisted)
Depigmented hair

Metaphysial spurring (mistaken for child abuse)

Tortuosity and elongation of cerebral and systetmic arteries

Mutation in ATP7A
- failure of copper absorption

Reduced Dopamine-b-hydroxylase (copper-dependent)
INcreased dopamine (substrates)
Reduced NE, DHPG (products)

A

Menkes Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

List the inherited metabolic diseases of infancy that predominantly affect the GRAY MATTER

A

SLANT Gang, No Doubt

Sandhoff
Leigh
Alexander
NCL
Tay-Sachs

GM1 GANGliosidosis

Neuroaxonal Dystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

List the inherited metabolic diseases of infancy that predominantly affect the WHITE MATTER

A

Krabbe SPAM

Krabbe

Spongy/Caravan
Pelizaeus-Merzbacher
Adrenoleukodystrophy
Metachromatic leukodystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

List the inherited metabolic diseases of infancy that present with VISCEROMEGALY

A

Spin Farber, Later MP!

Sandhoff
Pompe
Infantile Gaucher
Niemann-Pick

Farber

Later:
Mucolipidosis
Polysaccharidoses

56
Q

What is the triad for Gaucher?

A

OST-Gaucher

Opisthotonos
Strabismus
Trismus

57
Q

Presents with rapid pendular nystagmus (3)

A

Pendular nystagmus - wasak muscle ng mata - > taas CPK……..

Cockayne
Pelizaeus Merzbacher Disease
Krabbe

58
Q

Macular Cherry-Red Spots

A

Ni Lick ng Tongue ang Cherry ni Macula….

Niemann-Pick
Lipofuscinosis
Tay-Sachs

59
Q

Corneal Opacification (3)

A

Corneal opacification. Refer mo kay jay LIM

Lowe
Infantile GM1 G
MPS

60
Q

Cataracts

A

Zell Low, G

Zellweger
Lowe
Galactosemia

61
Q

Beaking of vertebral bodies is seen in

A

GM1 Gangliosidosis

62
Q

Raucious dysphonia, multiple arthropathies

A

Farber

63
Q

Storage granules, vacuolated lymphocytes

A

Niemann-Pick

GM1 G

64
Q

Macrocephaly (3)

A

CAT w/ a big head…… idunno..
Can Alexander Tay Sachs?

Canavan
Alexander
Tay-Sachs

65
Q

Acousticomotor obligatory startle

A

Tay-Sachs

66
Q

No tendon reflexes + (+) Babinski

A

MLK

Metachromatic Leukodystrophy
Krabbe
Leigh

67
Q

Intractable Seizures, Generalized/Multifocal Myoclonus, Plog Mutation, Walnut brain

A

Alpers

68
Q

Normal NS at birth, impaired PM devt in latter 1st year
IQ < 20 in 5-6 years

Hyperactivity, self-injurious behavior
Clumsy gait, fine tremor
Rhythmia

Blue-eyed, fair skin and hair color
Skin rough and dry, musty body odor

—-
Diagnosis?
Deficiency?
Labs?

A

Dx: PKU
Deficiency: Hepatic PA Hydroxylase
Labs: High serum phenylalanine, elevated phenylpyruvic acid (blood, CSF, urine)
Screening: Guthrie (ferric chloride test)

69
Q

Guthrie (ferric chloride test):

Emerald-green

A

PKU

70
Q

Guthrie (ferric chloride test):

Green-brown (permanent)

A

Histidinemia

71
Q

Guthrie (ferric chloride test):

Navy-blue

A

MSUD

72
Q

Guthrie (ferric chloride test)

Purple

A

Propionic Acid

Methylmalonic Acidemia

73
Q

PKU variant: Dystonic extrapyramidal rigidity (Stiff-baby syndrome) is due to failure to synthesize ____

A

Tetrahydrobiopterin

74
Q

Hereditary Tyrosinemia is a predominantly dermatologic aminoacidopathy that presents w/ DD, self-mutilation, ataxia, and language defects. Also w/ palmar and plantar keratosis, corneal erosions, corneal opacification.

Which of the following is the most severe mutation?
A) FAH
B) TAT
C) HPD

A

A) FAH (type 1)

75
Q

Tyrosine Hydroxylase deficiency is sensitive to what treatment?

A

L-dopa

76
Q

Transport error of natural AA across renal tubules leading to:

  • scaly rash, pellagrous skin changes
  • episodic personality disorder, cerebellar ataxia
  • triggered by sunlight, stress, sulfonamide drugs (SSS)

Diagnosis?
Treatment?

A

Hartnup Disease (SLC6A19 Mutation)

Nicotinamide. Avoid triggers

77
Q

Mutation in Metachromatic Leukodystrophy?

A

Arylsulfatase A (ARSA)

78
Q

Which of the following is NOT true of Neuroaxonal Dystrophy?

A) Progressive blindness, optic atrophy, normal retinae
B) Course relentlessly progressive
C) Eosinophilic spheroids of swollen axoplasm in posterior columns, clarke column, brainstem nuclei, and cortex
D) EEG shows a characteristic high amplitude fast rhythms at birth
E) Normal NCV despite EMG evidence of denervation

A

D) EEG shows a characteristic high amplitude fast rhythms at birth

EEG DOES show characteristic high amplitude fast rhythms but this is seen after 2 years

79
Q

What is the treatment of Infantile Opsoclonus-Myoclonus Syndrome? (Presents w/ myoclonus, dancing eyes)

A

Dexamethasone

AEDs have no effect

80
Q

Neuronal Ceroid Lupofuscinoses
TPP1 mutation.
Seizures and myoclonic jerks evoked by proprioceptive or other sensory stimuli
Retinal degeneration
Translucent vacuoles, azurophelic granules
Tx: intraventricular cerolipinase alpha

A) Infantile (Santavuori-Haltia)
B) Infantile-Juvenile (Jansky-Bielschowsky)
C) Juvenile
D) Adult (Kuf)

A

B) Infantile-Juvenile (Jansky-Bielschowsky)

81
Q

Neuronal Ceroid Lupofuscinoses

CLN3 Mutation
Visual loss, seizures, ataxia

A) Infantile (Santavuori-Haltia)
B) Infantile-Juvenile (Jansky-Bielschowsky)
C) Juvenile
D) Adult (Kuf)

A

C) Juvenile

82
Q

Neuronal Ceroid Lupofuscinoses

Widespread myoclonus
EEG: spike-slow wave -> becomes isoelectric

A) Infantile (Santavuori-Haltia)
B) Infantile-Juvenile (Jansky-Bielschowsky)
C) Juvenile
D) Adult (Kuf)

A

A) Infantile (Santavuori-Haltia)

83
Q

Neuronal Ceroid Lupofuscinoses

CLN 6 mutation
Dementia

A) Infantile (Santavuori-Haltia)
B) Infantile-Juvenile (Jansky-Bielschowsky)
C) Juvenile
D) Adult (Kuf)

A

D) Adult (Kuf)

84
Q

MPS I

A

Hurler

85
Q

MPS III

A

Sanfilippo

86
Q

MPS II

A

Hunter

87
Q

MPS IV

A

MOrquio

88
Q

MPS VII

A

Sly

89
Q

MPS VI

A

Maroteaux-Lamy

90
Q

Enzyme deficiency and GAG in MPS I (Hurler)

A

A-L-Iduronidase (Dermatan & Heparan sulfate)

91
Q

Enzyme deficiency and GAG in MPS II (Hunter)

A

Iduronate sulfatase (Dermatan and heparan sulfate)

92
Q

Enzyme deficiency and GAG in MPS III (Sanfilippo)

A

Heparan N-sulfatase (Heparan sulfate)

93
Q

Enzyme deficiency and GAG in MPS IV (Morquio)

A

Galactose 6-sulfatase (Keratan & chondroitin 6-sulfate)

94
Q

Enzyme deficiency and GAG in MPS VI (Maroteaux-Lamy)

A

Arylsulfatase B (Dermatan sulfate)

95
Q

Enzyme deficiency and GAG in MPS VII (Sly)

A

B-glucoronidase (dermatan, heparan, chondroitin 4 sulfate)

96
Q

All of the MPS are AR except for 1. Which of the mucopolysaccharidoses is X-linked?

A

MPS II (Hunter)

*Hunter X Hunter

97
Q

Which of the MPS presents with normal intelligence?

A

MPS VI (Maroteaux-Lamy)

98
Q

Which MPS has hypoplasia of the odontoid process, atlantoaxial dislocation, dural thickening around the cervical cord and inferior cerebellar surface?

A

MPS IV (Morquio)

99
Q

Difference between MPS II (Hunter) and MPS I (Hurler)?

A

In MPS II, developmental delay and deafness are less common, also w no corneal clouding

100
Q

Which Mucolipidoses (I-IV) presents with Gargoylism, cherry-red spots, and metachromatic changes in the sural nerve?

A

Mucolipidosis I

101
Q

Which mucolipidosis is the most common?

A

Mucolipidosis II (I-cell disease)

102
Q

Dysostosis multiplex is present in all of the following except:

A) GM1 gangliosidosis
B) Hurler Disease
C) Mucolipidosis I
D) Mucolipidosis II

A

C) Mucolipidosis I

It is present in ML II, not I

103
Q

Which mucolipidosis presents with gingival hyperplasia and tonic-clonic seizures in older patients?

A

Mucolipidosis II

104
Q 
AR
Hepatosplenomegaly, enlarged salivary glands
Excessive sweating
Gargoyle facies
Beaking
Angiokeratoma corporis diffusum
A

Fucosidosis (FUCA1 mutation)

105
Q

What is the mutation in Cockayne Syndrome?

A

ERCC

106
Q

Pendular nystagmus
Stunting of growth
Amyotrophy w/ reduced NCV
Photosensitivity

Small brain, leukodystrophy
Severe cerebellar cortical atrophy
Primary segmental demyelination

A

Cockayne Syndrome

107
Q

Which Mucolipidosis has normal urinary sialic acid excretion?

A

Mucolipidosis IV

108
Q

Which diseases present with Ocular apraxia?

A

Ataxia-telangiectasia

Niemann-Pick disease

109
Q

Which of the following is NOT true of Bassen-Kornzweig Acanthocystosis?

A) Presents with ataxia, sensory neuropathy
B) Common in ages 6-12 years
C) Vitamin E deficiency may be a pathogenic actor
D) MTTP mutation
E) None of the above

A

E) None of the above

110
Q

Which of the following is NOT true of Familial Hypobetalipoproteinemia?

A) Presents with the HARP syndrome
B) Autosomal recessive
C) Mutations in gene encoding b-lipoprotein B
D) Tx: dietary fat restriction, vit. E supplementation
E) None of the above

A

B) Autosomal recessive

Familial Hypobetalipoproteinemia is Autosomal Dominant

111
Q

What are the 2 mutations in Lafora-Body Polymyoclonus w/ Epilepsy?

A

EPM2A (laforin)

NHLRC1 (Malin)

112
Q

Usual location of seizures in Lafora-Body Polymyoclonus with epilepsy?

A) Frontal
B) Temporal
C) Parietal
D) Occipital

A

D) Occipital

113
Q

What is the mutation in Wilson Disease?

A

ATP7B

114
Q

What intervention halts progression of Wilson Disease?

A

Liver transplantation

115
Q

When is the usual onset of neurologic symptoms in Wilson Disease?

A

2nd decade

116
Q

What are the usual first neurologic symptoms in Wilson Disease?

A

Extrapyramidal, oropharyngeal muscles involved

117
Q

True or false: In Wilson Disease, an abnormality in behavior precedes other neurologic signs by a year or more

A

True

118
Q

What kind of tremor is seen in Wilson Disease?

A

Wing-beating tremor

119
Q

True or false: Parkinsonian features in Wilson Disease respond to L-dopa

A

False

120
Q

Which of the following is true regarding the histopathologic findings in Wilson Disease

A) Frank cavitation in the lenticular nuclei is seen in the chronic form
B) Shrinkage and light-brown discoloration of the lenticular nuclei can be seen in the rapidly advancing and fatal form
C) There is marked hyperplasia of Alzheimer type II cells in the cortex, BG, brainstem, and cerebellum
D) None of the above

A

C) There is marked hyperplasia of Alzheimer type II cells in the cortex, BG, brainstem, and cerebellum

** Frank cavitation in the lenticular nuclei is seen in the RAPIDLY ADVANCING and FATAL form

** Shrinkage and light-brown discoloration of the lenticular nuclei can be seen in the MORE CHRONIC form

121
Q

2 particular side effects of D-penicillamine in the treatment of Wilson Disease

A

Rash

Abrupt worsening of neurologic signs

122
Q

The “Eye of the Tiger” sign on MRI can be seen in which condition?

A 
Hallervorden-Spatz disease
Panthotenate kinase (PANK)-associated neurodegeneration
123
Q

What is the mutation in Lesch-Nyhan Syndrome?

A

HPRT1 mutation

124
Q

X-linked hereditary choreoathetosis with self-mutilation (esp of the lips) and hyperuricemia

A

Lesch-Nyhan Syndrome

125
Q

Treatment for self-mutilation in Lesch-Nyhan syndrome

A

Fluphenazine (Prolixin)

126
Q

True or false: Serum Ca levels are markedly elevated in Fahrs disease

A

False. Serum Ca normal

127
Q

How does X-linked adrenoleukodystrophy present in heterozygous female carriers?

A

Chronic, mild, nonprogressive spastic paraparesis

128
Q

What is a specific laboratory marker for X-linked adrenoleukodystrophy?

A

Excess of VLCFAs

129
Q

Only known treatment in X-linked ADL?

A

Bone marrow transplantation

130
Q

In Cerebrotendinous Xanthomatosis, patients present with cataracts and xanthomas of tendons and lungs at chilhood, then with cognitive, cerebellar, and neuropathic sx later on. What is the mutation and basic defect?

A

CYP27A mutation

Defect in synthesis of primary bile acids -> inc hepatic production of cholesterol and cholestanol

131
Q

What disease simulates Marfan syndrome (tall habitus, skeletal features, hair, ectopia lentis but downward) and has mental retardation, CV lesions, dementia, epilepsy, and polyneuropathy?

What’s the mutation?
What is the treatment?

A

Homocystinuria
CBS (cystathionine beta synthase) mutation

Tx: Pyridoxine, folate, cobalamin

132
Q

What is the inheritance pattern for Fabry Disease?

A

X-linked

133
Q

AKA angiokeratoma corporis diffusum
Deficit: enzyme alpha-galactosidase A
Intermittent lancinating pains and dysesthesias of the extremities

Evocation by fever, hot weather, and vigorous exercise

Thrombotic cerebral infarctions

Periumbilical angiokeratomas

A

Fabry Disease

134
Q

The following inherited metabolic diseases are associated with stroke EXCEPT:

A) Homocystinuria
B) Fabry Disease
C) Sulfite Oxidase Deficiency
D) Hallervorden-Spatz Disease

A

D) Hallervorden-Spatz Disease

- pigmentary degeneration of the globus pallidus

135
Q

Subacute Necrotizing Encephalomyelopathy

Abrupt appearance of neurologic symptoms

Similar lesions to Wernicke Disease but spares mamillary bodies

Lactic acidosis

A

Leigh Disease

136
Q

Neuropathy, Ataxia, Retinitis Pigmentosa Syndrome has a defective ATPase-6 of complex ___ of the mitochondrial respiratory chain.

A

Complex V

🧠📖💯 (20 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions