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Can you name the Biochem?

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Score 0/25 Timer 15:00
Signs/SymptomsDeficiency OR DiseaseDisease: accumulated substance
peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease, corneal changes, GI symptoms
mild developmental delay, mild gargoylism, mild airway obstruction, aggressive behavior, no corneal clouding
peripheral neuropathy, developmental delay, optic atrophy, hypertonia, irritability, globoid cells
mild, galactosemia, infantile cataracts
hypoglycemia, jaundice, cirrhosis, CKD, N/V
high glycogen in muscle, painful cramps, myoglobinuria
severe fasting hypoglycemia, very high glycogen in liver, high blood lactate, hepatomegaly
hemolysis when exposed to infection or oxidizing agent
severe CNS defects, MR, death, urine smells sweet, excess alpha keto acids in blood/urine
FTT, jaundice, HSM/cirrhosis, infantile cataracts, MR
hyperammonia, orotic aciduria and acidemia, low BUN
progressive neurodegeneration, HSM, cherry red spot on macula, foam cells
Signs/SymptomsDeficiency OR DiseaseDisease: accumulated substance
MR, sz, fair skin, eczema, musty body odor, growth retardataion
cardiomegaly, liver failure, MR, hypotonia
cystinuria, staghorn calculi
pellagra, tryptophan in urine
progressive neurodegeneration, muscle weakness, developmental delay, cherry red spot on macula, 'onion-skin' lysosomes, NO HSM
HSM, aseptic necrosis of femur, bone crises, macrophages that look like crumpled tissue paper
homocystinuria, MR, osteoporosis, marfanoid, lens subluxation, atherosclerosis
dark connective tissue, black urine, arthralgia
central and peripheral demyelination, ataxia, dementia
lack of melanin
developmental delay, gargoylism, airway obstruction, corneal clouding, CAD, HSM
mild fasting hypoglycemia, normal blood lactate, mild hepatomegaly

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