Diseases I Can't Remember

Question 1

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

Answer 1

metachromatic leukodystrophy; autosomal recessive

Question 2

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)

Answer 2

Charcot-Marie-Tooth disease; typically autosomal dominant

Question 3

peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Answer 3

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

Question 4

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

Answer 4

adrenoleukodystrophy; x-linked

Question 5

brittle, kinky hair; growth retardation; hypotonia

Answer 5

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

Question 6

cafe-au-lait spots, cutaneous neurofibromas

Answer 6

NF1, autosomal dominant

Question 7

bilateral acoustic schwannoma, juvenile cataracts, meningiomas, ependymomas

Answer 7

NF2

Question 8

small jaw, low-set ears, clenched hands

Answer 8

Edwards, trisomy 18

Question 9

cleft lip/palate, holoprosencephaly, polydactyly

Answer 9

Patau, trisomy 13

Question 10

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

Answer 10

cri-du-chat; microdeletion 5p

Question 11

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

Answer 11

Williams; microdeletion 7q

Question 12

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

Answer 12

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

Question 13

elevated fructose in blood/urine; otherwise asymptomatic

Answer 13

fructokinase defect

Question 14

hypoglycemia, jaundice, cirrhosis, vomiting; elevated fructose

Answer 14

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

Question 15

galactose in blood/urine; infantile cataracts

Answer 15

galactokinase deficiency; galactitol accumulates

Question 16

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

Answer 16

galactose-1-P uridyltransferase deficiency

Question 17

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

Answer 17

ammonia intoxication

Question 18

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

Answer 18

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

Question 19

what amino acid becomes essential in PKU

Answer 19

tyrosine

Question 20

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

Answer 20

alkaptonuria; homogentisate oxidase deficiency in tyrosine–>fumarate

Question 21

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

Answer 21

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

Question 22

treat cystathionine synthase def

Answer 22

low methionine, high cysteine, high B12 and folate

Question 23

treat dec affinity of cystathionine synthase for pyridoxal phosphate

Answer 23

B6 and cysteine

Question 24

treat homocystein methyltransferase def

Answer 24

methionine

Question 25

excess cystine in urine and hexagonal cystine stones

Answer 25

cystinuria; defect of renal PCT and intestinal transporter for cysteine, ornithine, lysine, and arginine
treat with alkalization, chelating agents, hydration

Question 26

maple syrup urine disease

Answer 26

blocked degradation of branched amino acids (isoleucine, leucine, valine)
restrict in diet, supplement thiamine