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

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