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

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