Dennis Livingston 1999

Please help by filling in the differential diagnosis.

Biochemical Board Diseases

Disease	Enzyme/Protein/Vitamin	Differential Diagnosis
sickle cell anemia	beta globin
beta thalassemia	beta globin
osteogenesis imperfecta	collagen
Ehlers-Danlos Type IV	collagen
alpha-1-antitrypsin deficiency	alpha-1-antitrypsin
phenylketonuria	phenylalanine hydroxylase
alcaptonuria	homogentisate oxidase
maple syrup urine disease	alpha-keto acid dehydrogenase
gout	xanthine oxidase
ornithine transcarbamylase deficiency	ornithine transcarbamylase
albinism	tyrosinase
porphyrias	heme biosynthesis	light sensitive skin; funny colored urine
Fabry's	alpha-galactosidase
Hunter	iduronate sulfatase
Hurler+Scheie	alpha-L-iduronidase
Tay-Sachs	hexosaminidase A
Gaucher's	beta-glucosidase
Niemann-Pick	sphingomylinase
familial hypercholesterolemia	LDL receptor
severe combined immunodeficiency syndrom (SCIDS)	adenosine deaminase
hemophilia A	Factor VIII
pernicious anemia	vitamin B12 binding protein (intrinsic factor)
Cushing's disease	ACTH
McArdle's	muscle glycogen phosphorylase
Von Gierke's	glucose-6-phosphatase
fructoseuria	aldolase B
G6PD deficiency	glucose-6-phosphate dehydrogenase
MCAD deficiency	medium-chain acyl dehydrogenase
Lesch-Nyhan	hypoxanthine-guanine phosphoribosyl transferase
Zellweger's	no peroxisomes
xeroderma pigmentosum	nucleotide excision repair enzymes
hereditary nonpolyposis colerectal cancer	mismatch repair enzymes
beriberi	thamine (B1)
pellagra niacin	niacin
scurvy	vitamin C
rickets	vitamin D