Biochem

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

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