Inborn Errors of Metabolism Flashcards
MR, mousy body odor, blue eyes, blond hair
PKU
dec phe and inc tyr
problem in maple syrup urine disease
isoleucine, leucine, valine cannot be digested
“I LoVe maple syrup”
inability to digest galactose → profound illness following first milk/formula feedings, ↑risk of E. coli sepsis
galactosemia
mut gal-P-uridyltransferase
inability to digest fructose → profound illness following first fruit juice feedings
hereditary fructose intolerance
mut aldolase B
seborrheic dermatitis, enteritis, alopecia
biotinidase deficiency
inability to digest tyrosine → failure to thrive, hepatomegaly, liver failure
+ treatment
Tyrosinemia
nitisinone (enzyme that bypasses metabolite accumulation)
FTT, hypoglycemia, hepatomegaly, lactic acidosis, characteristic appearance (short w/ fat cheeks, thin arms, big abdomen)
Von Gierke disease
canot run glycolysis due to mutation in Glucose 6 Pase
FTT, hypoglycemia, cardiomegaly
Pompe disease
“bathing trunk” angiokeratomas
Fabrys (∆β-galactosidase)
Erlenmeyer-flask” appearance of long bones, “wrinkled paper” cells
Gaucher disease: AR ∆β-glucosidase,
“cherry-red macula” w/ HSM
Neiman Pick (AR ∆sphingomyelinase)
“cherry-red macula” w/o HSM, exaggerated startle response (hyperacusis)
Tay sachs
inability to digest glycosamino- glycans → coarse facial features (“gargoyle-like”), HSM, progressive developmental delay, death
hurler’s
Dx urinary dermatan sulfate and heparan sulfate
inability to digest amino acids in urea cycle → profound illness following first protein feedings
OTC deficiency
urine that turns brown/black on air exposure, adult- onset arthritis
Alkaptonuria
AR ∆homogentisate oxidase
