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

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