Diseases I Can't Remember Flashcards
central and peripheral demyelination with ataxia, dementia; arylsulfatase A deficiency - buildup of sulfa tides and impaired production of myelin sheath
metachromatic leukodystrophy; autosomal recessive
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)
Charcot-Marie-Tooth disease; typically autosomal dominant
peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Krabbe disease; autosomal recessive deficiency of galactocerebrosidase leading to buildup of galactocerebroside and psychosis destroying the myelin sheath
long-term coma/death and adrenal crisis; buildup of very long chain fatty acids in nervous system, adrenal gland, and testes
adrenoleukodystrophy; x-linked
brittle, kinky hair; growth retardation; hypotonia
Menkes disease; impaired copper absorption and transport (decreased lysyl oxidase dependent cross-linking of collagen)
cafe-au-lait spots, cutaneous neurofibromas
NF1, autosomal dominant
bilateral acoustic schwannoma, juvenile cataracts, meningiomas, ependymomas
NF2
small jaw, low-set ears, clenched hands
Edwards, trisomy 18
cleft lip/palate, holoprosencephaly, polydactyly
Patau, trisomy 13
microcephaly, high-pitched cry/mew, epicanthal folds, VSD
cri-du-chat; microdeletion 5p
elfin face, hypercalcemia, good verbal skills, no stranger danger
Williams; microdeletion 7q
cleft palate, abnormal facies, thymic aplasia, parathyroid aplasia, cardiac defects
22q11 deletion; DiGeorge or VCFS; 3rd and 4th branchial pouches don’t develop properly
elevated fructose in blood/urine; otherwise asymptomatic
fructokinase defect
hypoglycemia, jaundice, cirrhosis, vomiting; elevated fructose
aldolase B deficiency; fructose-1-P accumulates and inhibits glycogenolysis and gluconeogenesis
galactose in blood/urine; infantile cataracts
galactokinase deficiency; galactitol accumulates
failure to thrive, jaundice, hepatomegaly, infantile cataracts, elevated galactose levels
galactose-1-P uridyltransferase deficiency
tremor (asterixis), slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision
ammonia intoxication
hyperammonemia signs, low BUN, elevated orotic acid levels, no megaloblastic anemia
ornithine transcaramylase deficiency; most common urea cycle; x-linked recessive (others are autosomal recessive)
what amino acid becomes essential in PKU
tyrosine
dark connective tissue, brown pigmented sclera, urine turns black on prolonged exposure to air; arthralgia
alkaptonuria; homogentisate oxidase deficiency in tyrosine–>fumarate
homocysteine in urine, intellectual disability, osteoporosis, tall stature, kyphosis, lens sublaxation (down and in), thrombosis, atherosclerosis (stroke and MI)
homocystinuria; cystathionine synthase def., dec affinity of cystathionine synthase for pyridoxal phosphate; homocysteine methyltransferase (methionin synthase) def.
treat cystathionine synthase def
low methionine, high cysteine, high B12 and folate
treat dec affinity of cystathionine synthase for pyridoxal phosphate
B6 and cysteine
treat homocystein methyltransferase def
methionine
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
maple syrup urine disease
blocked degradation of branched amino acids (isoleucine, leucine, valine)
restrict in diet, supplement thiamine
