Biochem Diseases

Front 1

what is alkaptonuria

Back 1

deficiency of homogentisic acid oxidase
tyrosine degradation pathway
urine turns black on standing (alkaptone bodies)
arthralgias

Front 2

what are three forms of homocystinuria? What drug can cause this?

Back 2

cystathionine synthase deficiency, decreased affinity of cystathionine for B6, homocysteine methyltransferase deficiency; INH

Front 3

presentation of homocystinuria?

Back 3

mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis

Front 4

how do you treat cystinuria?

Back 4

acetazolamide

Front 5

what is accumulated in maple syrup urine disease? cause?

Back 5

decreased a-ketoacid dehydrogenase causes increased Ile Val, Leu

Front 6

adenosine deaminase deficiency causes what?

Back 6

SCID (defective T and B cells)

Front 7

retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis. what is the cause?

Back 7

Lesh-Nyhan syndrome - absence of HGPRT, impaired degradation of hypoxanthine --> uric acid production

Front 8

severe fasting hypoglycemia, INCREASED glycogen in liver, increased blood lactate, hepatomegaly. what is deficient enzyme?

Back 8

Von Gierke's disease; Glucose-6-phosphatase

Front 9

cardiomegaly and systemic findings. death before 2 years; lysosomes affected in all cells. what is the defect?

Back 9

Pompe's; alpha-1,4-glucosidase

Front 10

hepatomegaly, FTT, hypoglycemia, ketosis, hyperuricemia, hyperlipidemia. what is the defect?

Back 10

Cori's; debranching enzyme (alpha-1,6-glucosidase)

Front 11

liver cirrhosis, death before 2 yrs, long outer branches of glycogen. deficient enzyme?

Back 11

Anderson's: branching enzyme

Front 12

child has painful muscle cramps with exercise, myoglobinuria. what is deficient enzyme?

Back 12

McArdle's: glycogen pohspohrylase

Front 13

peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease. what is the deficient enzyme and accumulated substrate?

Back 13

Fabry's Disease
DE: a-galactosidase A
AS: Ceramide trihexoside

Front 14

HSM, aseptic necrosis of femur, bone crises, crumpled tissue paper macrophages. what is deficient enzyme and accumulated substrate?

Back 14

Gaucher's Disease
DE: B-glucocerebrosidase
AS: Glucocerebroside

Front 15

progressive neurodegeneration, HSM, cherry-red spot on macula, foam cells. what is deficient enzyme and accumulated substrate?

Back 15

Niemann-Pick disease
DE: sphingomyelinase
AS: sphingomyelin

Front 16

Progressive neurodegeneration, developmental delay, cherry-red spot, lysosomes with onion-skin. what is deficient enzyme and accumulated substrate?

Back 16

Tay-Sach's
DE: Hexosaminidase A
AS: GM2 ganglioside

Front 17

peripheral neuropathy, developmental delay, optic atrophy, globoid cells. what is deficient enzyme and accumulated substrate?

Back 17

Krabbe's disease
DE: galactocerebrosidase
AS: galactocerebroside

Front 18

Central and peripheral demyelination with ataxia, dementia. what are deficient enzyme and accumulated substrate?

Back 18

Metachromatic leukodystrophy
DE: arylsulfatase A
AS: cerebroside sulfate

Front 19

developmental delay, gargoylism, airway obstruction, corneal clouding, HSM. What are deficient enzyme and accumulated substrate?

Back 19

Hurler's syndrome AR
DE: a-L-iduronidase
AS: Heparan sulfate, dermatan sulfate

Front 20

developmental delay, gargoylism, airway obstruction, HSM, aggressive behavior. What are deficient enzyme and accumulated substrate?

Back 20

Hunter's syndrome XR
DE: Iduronate sulfatase
AS: Heparan sulfate, dermatan sulfate