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Laughing Your Way to Boards > Metabolic Diseases > Flashcards

Metabolic Diseases Flashcards

1
Q

6 AMINOACIDOPATHIES

A 
Hartnup disease
Homocystinuria
MSUD
Non ketotic hyperglycinemia
PKU
Sulfide oxidase deficiency
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2
Q

Presentation of aminoacidopathies

A

present in infancy or at times of illness with altered mental status, vomiting and poor feeding

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3
Q

Ammonia level in aminoacidopathies

A

Usually normal, except in Urea cycle disorders

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4
Q

GLYCOGEN STORAGE DISEASES (GSD)
Name the enzyme
I - Von Gierke

A

Glucose-6-phosphatase

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5
Q

GLYCOGEN STORAGE DISEASES (GSD)
Name the enzyme
II - Pompe

A

acid maltase (1,4 glucosidase)

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6
Q

GLYCOGEN STORAGE DISEASES (GSD)
Name the enzyme
III - Cori-forbes

A

Debranching

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7
Q

GLYCOGEN STORAGE DISEASES (GSD)
Name the enzyme
IV - Andersen

A

transglucosidase

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8
Q

GLYCOGEN STORAGE DISEASES (GSD)
Name the enzyme
V - McArdle

A

muscle phosphorylase

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9
Q

GLYCOGEN STORAGE DISEASES (GSD)
Name the enzyme
VI - Hers

A

liver phosphorylase

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10
Q

GLYCOGEN STORAGE DISEASES (GSD)
Name the enzyme
VII - Tarui

A

muscle phosphofructokinase

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11
Q

Pattern of inheritance of GSD

A

all are AUTOSOMAL RECESSIVE except

PHOSPHOGLYCERATE KINASE DEFICIENCY (Type IX) which is X-linked

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12
Q

Most GSD involve muscle except

A

Type I and VI

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13
Q

LYSOSOMAL STORAGE DISEASES

LSD = MPS + NCL + SLD

A

Mucopolysaccharidoses + Neuronal Ceroid Lipofuscinoses + Spingolipidoses

“My Niece Sells LSD”

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14
Q

Fabry’s Disease

A

alpha galactosidase

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15
Q

Farber’s Disease

A

Ceramidase

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16
Q

Gaucher’s Disease

A

Beta glucosidase

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17
Q

Krabbe Disease

A

Galactosyl ceramide beta galactosidase

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18
Q

Metachromatic Leukodystrophy

A

Arylsulfatase A

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19
Q

Niemann Pick Types A and B

A

Spingomyelinase

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20
Q

Sandhoff Disease

A

Hexosaminidase A and B deficiency

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21
Q

Tay-Sachs Disease

A

Hexosaminidase A deficiency

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22
Q

Urea Cycle Disorders
Patients with complete absence of these enzymes present in the ______ period with _____ and _____.
They may have ___________ due to tachypnea.

A

neonatal period

coma and hyperammonemia

respiratory alkalosis

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23
Q

T or F

Urea Cycle Disorders
Normal glucose, not acidotic

A

T

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24
Q

MC urea cycle defect

A

Ornithine transcarbamylase (OTC) deficiency

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25
Q

Inheritance of OTC def

A

X-linked

the other urea cycle disorders are autosomal recessive

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26
Q

Urea Cycle Disorders

A 
Carbamyl phosphate synthetase I (CPS I)  deficiency
OTC deficiency
Citrullnemia
Arginosuccinicaciduria
Arginemia

“Ammonia Came (CPS I) Over The Counter (OTC) synthesized (arginosuccinic acid synthetase), And Slid (Argino-succinic lyase) Away As (arginase) Urea (urea)”

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27
Q

Abetalipoproteinemia eponym

A

Bassen-Kornzweig Syndrome

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28
Q

Abetalipoproteinemia cause

A

mutations in gene that encodes for microsomal triglyceride transfer protein (MTP) on chromosome 4

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29
Q

deficiency of MTP results in near absence of apo-B-containing lipoproteins in plasma

A

Abetalipoproteinemia

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30
Q

Abetalipoproteinemia primarily affects ____ columns and ____ tracts

A

posterior columns and spinocerebellar tracts

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31
Q

Clin manifestation of Abetalipoproteinemia

A

ataxia, neuropathy, streatorrhea, retinitis pigmentosa, acanthocytosis

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32
Q

mnemonic

Abetalipoproteinemia is associated with lots of As:

A

ataxia
areflexia
loss of Vitamin A (and Vitamins D, E, K)

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33
Q

mnemonic

Abetalipoproteinemia/ Bassen-Kornzweig disease
BASSEN - K

A

BASSEN-K

B apolipoprotein B is deficient
Acanthocytosis, ataxia, areflexia, vit A deficiency
Steatorrhea
Sensory loss, Spinocerebellar degeneration
Eye findings: pigmentary retinopathy, Vit E def
Neuropathy

K vit K deficiency

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34
Q

Acid Maltase Deficiency

A

Pompe’s Disease or GSD Type II

autosomal R

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35
Q

Infantile Type Acid Maltase Deficiency

Clinical Manif

A

neonatal hypotonia
macroglossia
cardiomegaly
hepatomegaly

36
Q

Course/prognosis of Pompe Disease

A

tend to die by 2 yo from cardioresp failure or aspiration pneumonia without treatment

mnemonic:
patients with infantile onset GSD Type “2” usually die by age “2” yrs without tx

37
Q

Pathologic findings of Pompe

A

PAS (+) membrane-bound vacuoles in muscle, liver and Schwann cells

38
Q

Pompe Disease
mnemonic
Think of it as Pump’s Disease or Plump’s Disease

A 
Pump's = defective heart (pump)
Plump = plump heart, liver, tongue (cardiomegaly, macroglossia, hepatomegaly)
39
Q

Adult Type Acid Maltase Deficiency

Symptoms

A

younger adults: fatigue
older adults: leg and trunk weakness
some with respiratory failure

40
Q

Diagnostic Findings in Adult Onset Acid Maltase Deficiency

A

increased CK

myotonia on EMG particularly in paraspinal muscles

41
Q

Associated with Adult onset Pompe Disease

A

Intracranial Aneurysms due to glycogen deposition

42
Q

mnemonic (adult onset Pompe)

Folks with AM say “I AM what I AM”

A

Acid Maltase deficiency in adults is associated with Aneurysms and Myopathy (vacuolar) and Asymptomatic Myotonia (in the paraspinal muscles on EMG)

43
Q

Acute Intermittent Porphyria (AIP)

deficient enzyme

A

phorphobilinogen deaminase

results in increased production of phorphobilinogen and aminolevulinic acid

glycine + succinyl CoA > aminolevulinic acid > phorphobilinogen (phorphobilinogen deaminase) > hydroxymethylbilane > uroporphyrinogen III&raquo_space;» heme

44
Q

AIP

pattern of inheritance and gene

A

Autosomal Dominant

Gene is on 11q

45
Q

AIP

onset

A

adolescence and early adulthood

46
Q

AIP attacks triggered by

A

certain meds, fasting, infection, hormonal changes during pregnancy

47
Q

meds avoided in AIP

A

carbamazepine, clonazepam, phenytoin, valproate

48
Q

Symptoms of AIP

A 
motor neuropathy (weakness), may progress to quadriparesis or respi failure, resembling GBS
Decreased reflexes
Confusion, delirium, psychosis, seizures
Severe abdominal pain, fever, tachycardia, HTN
49
Q

Problem in Aromatic L-Amino Acid Decarboxylase Deficiency (AADC Deficiency)

A

autosomal recessive
AADC is impt in synthesis of dopamine and serotonin

Dopa > (AADC) > dopamine
5hydroxytryptophan> (AADC) > serotonin

50
Q

AADC Deficiency mnemonic

AADC

A

Autonomic symptoms
Athetosis, Ataxia
Dystonia
C (see): ptosis, oculogyric crisis

51
Q

Adrenoleukodystrophy (ALD) lab findings

A

phytanic acid, pipecolic acid, very long chain fatty acids are elvated

52
Q

Diseases that elevate VLCFA

A

RAZ (Refsum disease, rhizomelic chondrodysplasia punctata, ALD and Zellweger syndrome), the weak, sickly dog on a Very Long Chain Far Away

53
Q

Sx of ALD

A

dysmorphic, weak, hypotonic

feed poorly, seizures, hepatomegaly, retinal degeneration, hearing deficit

54
Q

Neonatal ALD pattern of inheritance

A

autosomal recessive

55
Q

Sudanophilic Cerebral Sclerosis (ALD)

pattern of inheritance

56
Q

Sudanophilic Cerebral Sclerosis (ALD)

phenotypes

A

cerebral form
adrenomyeloneuropathy
addison’s disease
asymptomatic

57
Q

Sudanophilic Cerebral Sclerosis (ALD)

pathology

A

lame;lar cytoplasmic inclusions in brain and adrenal macrophages, consists of very long chain fatty acid esters

58
Q

Alexander Disease pattern of inheritance

A

autosomal D

59
Q

alexander disease - mutation if gene encoding for ____

A

GFAP (glial fibrillary acid protein)

60
Q

Sx of Alexander Disease

mnemonic (Alexander the Great)

A

megancephaly and seizures

Alexander the Great had a big head /large ego, and seized a lot of land

61
Q

MRI in Alexander Disease

A

demyelination, particularly frontal

mnenomic; Jason Alexander from Seinfeld has frontal balding

62
Q

2 disease that pathologically involved U fibers

A

Alexander’s and Canavan’s

Alex, Can-U remember the 2 disease that pathologically involved U fibers

63
Q

Pathology in Alexander Disease

_____ are found in astrocytes of patients

A

Rosenthal fibers

Rosenthal fibers are also char of juvenile polycystic astrocytoma

64
Q

Enzyme that converts dopamine to NE

A

dopamine-B-hydroxylase

65
Q

Sx of Dopamine-B-hydroxylase Deficiency in neonates

A

hypothermia, hypoglycemia, hypotension

clue: HYdroxylase

66
Q

Fabry’s Disease/Angiokeratoma Corporis Diffusum) pattern of inheritance

A

X-linked recessive

67
Q

enzyme deficient in Fabry’s Disease/Angiokeratoma Corporis Diffusum)

A

alpha-galactosidase A deficiency

results in accumulation of glycosphingolipids

68
Q

Often 1st manifestation of Fabry’s Disease

69
Q

Features of Fabry’s Disease

Fabry’s Disease is associated with All A’s

A 
Alpha galactosidase A
Acroparesthesias
Autonomic dysfunction
Anhidrosis
Arrhythmia
Acute renal failure
Abdominal pain
70
Q

Diseases with Cherry Red Spots

A 
(Farber Salivates Getting cherry-picked, half -off Sales at Sacks 5th Ave and Nieman Marcus)
Farber's disease
Sialidosis
GM1 Gangliosidosis
Sandfoff's
Tay Sachs
Niemann Pick Type A
71
Q

pathology in Farber’s Disease (aka lipogranulomatosis)

A

ceramidase deficiency

cause accumulation of ceramide in tissue, particularly joints

72
Q

autosomal recessive degenerative disease that affect gray matter and is accompanied by visceral storage of lipid ceramide

A

Farber’s disease

73
Q

Sx of Farber’s disease

A

hoarseness, subcutaneous nodules, cherry red spots, progressive arthropathy

Neuro: hypotonia, weakness, developemental delay

(Farber and Arthur both like grey ceramic horses = athropathy, grey matter, ceramide, hoarseness)

74
Q

complete deficiency of galactose -1-phosphate uridyltransferase

A

classical galactosemia

most severe

75
Q

age at which cataracts develop in galactosemia

A

1-2 months of age

76
Q

lipid storage disorder due to defect in glucocerebrosidase

A

Gaucher’s disease

“It may be gauche (Gaucher) but I always have sugar (glucose) on my mind (cerebrum)

77
Q

histiocytes containing lipid (PAS +)

A

Gaucher cells

78
Q

Types of Gaucher disease

A

I: non neuropathic, most common
II: acute neuropathic form
(assoc with trismus, strabismus, opisthotonus, spasticity ; death usu by age 2; laryngeal stridor and aspiration pneumonia are common:
III: chronic neuropathic form
(starts at 1st decade; cognitive deterioration, seizures, rigidity, ataxia, horizontal supranuclear gaze palsy; hepatosplenomegaly, ILD)

79
Q

due to mutation in the SLC2A1 gene

A

GLUT 1 deficiency (De Vivo Disease)

80
Q

Sx of GLUT 1 deficiency

A

seizures between 1 and 4 months of age; may have apnea and eye movements resembling opsoclonus; delayed milestones, microcephaly, spasticity, ataxia

81
Q

diagnosis of GLUT 1 deficiency

A

low CSF glucose (<40)
low CSF glucose: serum glucose ratio (1/3)
normal CSF lactate

82
Q

Tx of GLUT 1 deficiency

A

ketogenic diet

83
Q

MRI shows frontotemporal atrophy with prominent Sylvian fissures; this results in a bat wing appearance

A

Glutaric Acidemia Type 1

84
Q

may have retinal hemorrhages and subdural effusion

A

Glutaric Acidemia Type 1

85
Q

deficiency of glutaryl-coenzyme A dehydrogenase

A

Glutaric Acidemia Type 1

86
Q

lens deviation in Marfan and homocystinuria

A

Marfan: deviates upward
Homocystinuria: deviates upward
(mnemonic: px with marfan syndrome are really tall, so their lens dislocates upward:

87
Q

If untreated, characterized by Marfanoid features, ectopia lentis and/or myopia, mental retardation, seizures, liveo reticularis, codfish vertebra, malar flush and risk for thrmoboembolism

A

Homocystinuria due to Cystathione Beta synthase deficiency

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