Diseases I Can't Remember Flashcards

1
Q

central and peripheral demyelination with ataxia, dementia; arylsulfatase A deficiency - buildup of sulfa tides and impaired production of myelin sheath

A

metachromatic leukodystrophy; autosomal recessive

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2
Q

hereditary motor and sensory neuropathy; defective production of proteins involved in structure/function of peripheral nerves; associated with scoliosis and foot deformities (high or flat arches)

A

Charcot-Marie-Tooth disease; typically autosomal dominant

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3
Q

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

A

Krabbe disease; autosomal recessive deficiency of galactocerebrosidase leading to buildup of galactocerebroside and psychosis destroying the myelin sheath

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4
Q

long-term coma/death and adrenal crisis; buildup of very long chain fatty acids in nervous system, adrenal gland, and testes

A

adrenoleukodystrophy; x-linked

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5
Q

brittle, kinky hair; growth retardation; hypotonia

A

Menkes disease; impaired copper absorption and transport (decreased lysyl oxidase dependent cross-linking of collagen)

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6
Q

cafe-au-lait spots, cutaneous neurofibromas

A

NF1, autosomal dominant

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7
Q

bilateral acoustic schwannoma, juvenile cataracts, meningiomas, ependymomas

A

NF2

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8
Q

small jaw, low-set ears, clenched hands

A

Edwards, trisomy 18

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9
Q

cleft lip/palate, holoprosencephaly, polydactyly

A

Patau, trisomy 13

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10
Q

microcephaly, high-pitched cry/mew, epicanthal folds, VSD

A

cri-du-chat; microdeletion 5p

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11
Q

elfin face, hypercalcemia, good verbal skills, no stranger danger

A

Williams; microdeletion 7q

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12
Q

cleft palate, abnormal facies, thymic aplasia, parathyroid aplasia, cardiac defects

A

22q11 deletion; DiGeorge or VCFS; 3rd and 4th branchial pouches don’t develop properly

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13
Q

elevated fructose in blood/urine; otherwise asymptomatic

A

fructokinase defect

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14
Q

hypoglycemia, jaundice, cirrhosis, vomiting; elevated fructose

A

aldolase B deficiency; fructose-1-P accumulates and inhibits glycogenolysis and gluconeogenesis

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15
Q

galactose in blood/urine; infantile cataracts

A

galactokinase deficiency; galactitol accumulates

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16
Q

failure to thrive, jaundice, hepatomegaly, infantile cataracts, elevated galactose levels

A

galactose-1-P uridyltransferase deficiency

17
Q

tremor (asterixis), slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision

A

ammonia intoxication

18
Q

hyperammonemia signs, low BUN, elevated orotic acid levels, no megaloblastic anemia

A

ornithine transcaramylase deficiency; most common urea cycle; x-linked recessive (others are autosomal recessive)

19
Q

what amino acid becomes essential in PKU

20
Q

dark connective tissue, brown pigmented sclera, urine turns black on prolonged exposure to air; arthralgia

A

alkaptonuria; homogentisate oxidase deficiency in tyrosine–>fumarate

21
Q

homocysteine in urine, intellectual disability, osteoporosis, tall stature, kyphosis, lens sublaxation (down and in), thrombosis, atherosclerosis (stroke and MI)

A

homocystinuria; cystathionine synthase def., dec affinity of cystathionine synthase for pyridoxal phosphate; homocysteine methyltransferase (methionin synthase) def.

22
Q

treat cystathionine synthase def

A

low methionine, high cysteine, high B12 and folate

23
Q

treat dec affinity of cystathionine synthase for pyridoxal phosphate

A

B6 and cysteine

24
Q

treat homocystein methyltransferase def

A

methionine

25
excess cystine in urine and hexagonal cystine stones
cystinuria; defect of renal PCT and intestinal transporter for cysteine, ornithine, lysine, and arginine treat with alkalization, chelating agents, hydration
26
maple syrup urine disease
blocked degradation of branched amino acids (isoleucine, leucine, valine) restrict in diet, supplement thiamine