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Peds Neuro Boards > Congenital D/o p1 - Amino acid, organic acidurias, carb mtab, lysosomal, sphingolipidoses > Flashcards

Congenital D/o p1 - Amino acid, organic acidurias, carb mtab, lysosomal, sphingolipidoses Flashcards

1
Q

Glycogen storage diseases involving liver

A

1, 3, 4, 6

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2
Q

Glycogen storage diseases involving muscle

A

5, 7

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3
Q

Glycogen storage disease involving muscle, liver, and heart

A

2 (pompe)

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4
Q

Glycogen storage diseases in order

A

Very Poor Carbohydrate Affects Muscle and Hepatic Target

  1. Von Gierke
  2. Pompe
  3. Cori’s
  4. Andersen’s
  5. McArdle
  6. Her’s
  7. Tauri
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5
Q

GSD with defective muscle glycogen phosphorylase

A

McArdle

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6
Q

McArdle disease type, defective enzyme

A

GSD, Muscle Glycogen phosphorylase

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7
Q

Pompe disease type, defective enzyme

A

GSD, Acid Maltase

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8
Q

Von Gierke disease type, defective enzyme

A

GSD, glucose-6 phosphorylase

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9
Q

Fabry key unique finding

A

angiokeratoma

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10
Q

Angiokeratoma disease

A

Fabry

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11
Q

Gaucher unique finding

A

Femoral necrosis

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12
Q

Femoral Necrosis disease

A

Gaucher

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13
Q

Krabbe unique finding

A

optic atrophy

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14
Q

Sphingolipidoses without cherry red spot

A

Fabry, Gaucher

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15
Q

Sphingolipidoses without HSM

A

Metachromatic Leukodystrophy
Tay Sachs
Fabry

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16
Q

Large head inborn errors

A

Alexander
Canavan’s
Tay Sachs

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17
Q

Sphingolipidosis with microcephaly

A

Krabbe

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18
Q

Gaucher path

A

crumpled tissue paper gaucher cells

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19
Q

Tay-sachs path

A

Onion skin layers, whorled membrane

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20
Q

Krabbe path

A

multinucleated globoid cells

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21
Q

Leukodystrophies involving U fibers

A

Alexander’s

Canavan

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22
Q

OTC deficiency labs (ammonia, pH, anion gap, glucose)

A

Increased ammonia
respiratory alkalosis
normal anion gap
normal glucose

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23
Q

PKU enzyme

A

phenylalanine hydroxylase

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24
Q

PKU brief symptoms

A

microcephaly, sz, musty urine, light pigment, eczema

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25
Q

MSUD Enzyme

A

branched chain alpha ketoacid dehydrogenase

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26
Q

MSUD symptoms

A

Hypotonic, 4-7d apnea, optistotonic posture, fluctuating tone, sz

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27
Q

MSUD lab

A

Increased leucine, isoleucine, valene

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28
Q

Nonketotic hyperglycinemia symptoms

A

Neonatal hiccups –> hypotonic, myoclonic sz, resp fail

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29
Q

Lowe syndrome other name

A

oculocerebrorenal syndrome

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30
Q

Lowe syndrome symptoms

A

oculo - glaucoma, buphthalmos, cataracts, blind
Cerebro - hypotonia, sz, peripheral neuropathy
Renal - prox RTA, fanconi synd, rickets

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31
Q

Homocystinuria inheritance

A

AR

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32
Q

Homocystinuria enzyme function

A

defect methionine mtab –> poor collagen mtab, primarily cystathionine beta synthatase.

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33
Q

Homocystinuria sx

A

Marfanoid, ectopia lentis
malar flush, livedo reticularis
thrombus from thickened vessel wall

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34
Q

Homocystinuria labs

A

increased methionine, homocystine

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35
Q

Homocystinuria supplements

A

B6, B12, folate

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36
Q

Hartnup function problem

A

defect transport of neutral amino acids in kidney and small intestine

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37
Q

Hartnup sx

A

photosensitive rash

Intermittent episodes ataxia, AMS, hypotonia

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38
Q

Pyruvate dehydrogenase deficiency enzyme function

A

decarboxylate pyruvate to CO2 and acetyl CoA

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39
Q

Pyruvate dehydrogenase deficiency sx

A

Episodic symptoms - high carb meals!

Ataxia, nystag, areflexia, weak, hypotonia

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40
Q

Pyruvate dehydrogenase deficiency labs

A

Lactic and pyruvic acidosis

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41
Q

Biotinidase deficiency sx

A

sz, hypotonia, ataxia, spastic paraparesis

Hearing/vision loss, alopecia (or other cutaneous)

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42
Q

Propionic acidemia enzyme

A

propionyl-CoA carboxylase

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43
Q

Propionic acidemia sx

A

Hepatomegaly, bleeding.

Poor feed, hypotonia –> sz, coma, basal ganglia :(

44
Q

Propionic acidemia labs

A

Mtab acidosis with ketosis
elevated ammonia
elevated glycine and propionic acid

45
Q

Methylmalonic acidemia sx

A

Bleeding, severe ID

FTT, resp distress, hypotonia

46
Q

Methylmalonic acidemia labs

A

Mtab acidosis
ketosis
elevated ammonia
elevated glycine

47
Q

Pompe infantile timeline, sx

A 
rapid progression (die first few mos)
hypotonia, cyanosis and dyspnea, lg tongue, liver/heart bad
48
Q

Pompe childhood form timeline, sx

A

Onset ~2yo - die pulm infxn and resp fail.

Prox weak, hypotonia, lg calves, lg heart/liver

49
Q

Pompe adult form age, sx

A

2nd-4th decade
Slow progressive proximal weakness, esp diaphragm –> NM resp prob
No cardiomegaly, hepatomegaly, ID

50
Q

Pompe path

A

Vacuolated sarcoplasm with glycogen accum

51
Q

Glycogen storage disease enzyme memory tools

A

AB (Andersen’s - Branching
CD (Cori - debranching)
M=M (McArdle - Muscle glycogen phosphorylase)
H=H (Her’s - Hepatic glycogen phosphorylase)

Rest is a G.A.P
Von Gierke (1) - Glucose 6 phosphorylase
Pompe (2) - Acid maltase
Tauri (7) - Phosphofructokinase

52
Q

Galactosemia sx

A

Vomiting, hepatomegaly, cataracts

Hypotonia –> cog impair, ataxia, tremor

53
Q

Galactosemia lab

A

reducing substances in urine

54
Q

GLUT-1 deficiency gene

A

SLC2A1

55
Q

GLUT-1 deficiency sx

A

Sz, microcephaly, complex invol mvts

56
Q

Niemann Pick A/B enzyme

A

acid sphingomyelinase

57
Q

Niemann Pick A sx

A

Infancy, hypotonia, cherry red spot, HSM, regression, never sit

58
Q

Niemann Pick B sx

A

Mid childhood (may make to adult), just visceral sx (interstitial lung, HSM)

59
Q

Niemann pick A/B path

A

Vacuolated histiocytes (“foam cells”)
Concentric lamellar bodies
Zebra bodies

60
Q

Niemann Pick C defect

A

Defect intracellular cholesterol circulation

61
Q

Niemann Pick C lab

A

Abnormal filipin test

62
Q

Niemann Pick C sx

A

Visceromegaly and hepatic :(

Ataxia, vertical gaze apraxia. Then spastic, sz

63
Q

Fabry inheritance, enzyme

A

X-linked
Alpha galactosidase
“Fabulous alpha guy!”

64
Q

Fabry sx

A

Small fiber neuropathy (lancing/burning pain, autonomic)
Angiokeratomas - primarily abdomen/legs
Cardiac - valvular, arrhythmia, cardiomyopathy
Renal - acute renal fail, HTN, uremia
Vascular - ischemic stroke
Corneal opacities

65
Q

Fabry path

A

Lysosomal storage birefringent lipids

66
Q

Gaucher enzyme

A

Glucocerebrosidase, lysosomal

gaU – glU

67
Q

Gaucher 1 sx, tx

A

No early CNS sx, poss parkinsons elderly
HSM w/ anemia, skeletal prob, pulmonary infiltrates
Tx w/ enzyme replacement

68
Q

Gaucher 2 age, sx

A

Onset <2, death 2-4yo
Spastic, delayed, oculomotor abnl
HSM, hydrops fetalis, cutaneous abnl

69
Q

Gaucher 3 age, sx

A

After 2yo with slower progression
Psychomotor deterioration, spastic, ataxia, oculomotor, HSM
Tx w/ BMT

70
Q

Tay Sachs category, enzyme

A 
GM2 gangliosidosis
hexosaminidase A (Tay SachX)
71
Q

Tay Sachs age, sx

A

Onset 3-6mo, death by 5
increased startle –> motor regress, spastic, optic atrophy, sz
Macrocephaly, severe ID
Cherry red spot macula

72
Q

Sandhoff category, enzyme

A

GM2 gangliosidosis

Hexosaminidase A&B

73
Q

Sandhoff Sx

A

Like tay sachs (spastic, sz, macroceph, ID, optic atrophy)

+ HSM

74
Q

Abetalipoproteinemia enzyme, function

A

Microsomal Triglyceride Transfer Protein (MTTP)

–> fat malabsorption and lipid soluble vitamin def (esp E)

75
Q

Abetalipoproteinemia sx

A

FTT, loose stools –> dvlp delay, ataxia, gait abnl, decreased proprioception and reflexes
Retinitis pigmentosa, nystagmus

76
Q

Tangier gene, enzyme, function

A

ABCA1
ATP Cassette transporter protein
Cholesterol esters accum in various tissues

77
Q

Tangier sx

A

Peripheral neuropathy, weakness (esp hands), poor DTR

Lg orange tonsils, premature atherosclerosis

78
Q

Tangier labs, path

A

Low HDL, low serum cholesterol
Elevated triglycerides
Foamy macrophages

79
Q

Sialidosis enzyme

A

lysosomal alpha N-acetyl neuraminidase (sialidase)

80
Q

Sialidosis type 1, 2 age, sx

A

1: adolescent/adult. Cherry red spot, myoclonus, visual deterioration
2: childhood. Above + severe neuro sx, psychomotor retard, coarse facial features, skeletal dystosis

81
Q

Sialidosis neonatal sx

A

hydrops fetalis, nephrotic syndrome, early death

82
Q

Sialidosis path

A

Vacuolated lymphocytes with membrane bound vacuoles

83
Q

Neuronal Ceroid Lipofuscinosis sx

A

Myoclonus, blindness.

Infant hypotonic, late infant involuntary mvts, juvenile focal deficits, adult facial dyskinesias and no blindness

84
Q

Neuronal Ceroid Lipofuscinosis path

A

fingrprint bodies, rectilinear/curvilinear bodies

85
Q

Krabbe enzyme

A

Beta galactocerebrosidase

kraBBe – Beta

86
Q

Krabbe sx

A

spastic, vision loss (optic atrophy), cog impair
microcephaly
Infant with opisthotonus and low grade fevers
Adult with normal cognition

87
Q

Krabbe imaging

A

Periventricular WM abnormalities (T2 bright) - sparing U fibers

88
Q

Metachromatic Leukodystrophy enzyme

A

lysosomal arylsulfatase A

89
Q

Metachromatic Leukodystrophy classic sx

A

hypotonic with falls –> UMN/LMN sx, loss vision/hearing –> coma/death

90
Q

Metachromatic Leukodystrophy adult sx

A

slurred speech, psych probs, hallucinations/delusions –> rigid, tremors, weak, brisk reflexes, dementia

91
Q

Metachromatic Leukodystrophy imaging

A

diffuse periventricular and subcortical hyperintensity sparing U fibers
Tigroid stripes axial (sparing venules)

92
Q

Canavan enzyme

A

aspartoacylase

93
Q

Canavan age, sx

A

start 10wk-4mo, death in 2nd decade

Poor fixation/tracking, dvlp regression with no sitting –> megalencephaly, spasticity

94
Q

Canavan MRI

A

diffuse symmetric T1 hypo/T2 hyperintensity WM, involves U fibers

95
Q

Pelizaeus-Merzbacher gene, dysfunction

A

PLP1, hypomyelinating leukodystrophy

96
Q

Pelizaeus-Merzbacher sx

A

Nodding head mvt, pendular nystagmus. Abnormal movements with spasticity. Laryngeal stridor
–> sz, optic atrophy

97
Q

Pelizaeus-Merzbacher MRI

A

Near absent myelination (looks like newborn brain)

98
Q

Adrenoleukodystrophy inheritance, gene, function

A

X-linked
ABCD1
Peroxisomal membrane transport –> accum VLCFA

99
Q

Adrenoleukodystrophy classic/childhood age, sx

A

start 4-8yo
Behavior change –> spastic, gait prob, bulbar prob
+ adrenal insufficiency

100
Q

Adrenoleukodystrophy - adrenomyeloneuropathy age, sx

A

Most common form, starts after 20yo
Slow progressive paraparesis and sensory neuropathy
Adrenal insuff
Sexual dysfunction, poor sphincter control

101
Q

Adrenoleukodystrophy MRI

A

Occipital/pariteal confluent T2 hyperintensities with rim enhancement

102
Q

Adrenoleukodystrophy labs

A

elevated VLCFA, ACTH

103
Q

Alexander inheritance, gene

A

AD

GFAP

104
Q

Alexander sx

A

Megalencephaly, sz, progressive spastic quadriparesis

Death in childhood

105
Q

Alexander imaging

A

Frontal T2 hyperintensities

106
Q

Alexander path

A

rosenthal fibers

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