Biochem

Front 1

How does phosphofructokinase deficiency present?
A Glycogen storage D (7).

Back 1

muscle cramps, hemolytic anemia and/or myoglobinuria. increased muscle glycogen stores (glucose shunted toward glycogen b/c glycolytic pathway nonfunctional)

Front 2

How does pyruvate kinase deficiency present?

Back 2

can not make ATP, hemolytic anemia. Asymptomatic or needs transfusion.

Front 3

Von Gierke's
Glycogen storage D (1)

Back 3

Glucose 6- phosphatase deficiency (gluconeogenesis), shunted.
uric acid stones, xanthomas

Front 4

Pompe's D
Glycogen storage D (2)

Back 4

lysosomal alpha-glucosidase deficiency
this enzyme directly changes glycogen to glucose.
glycogen buildup, enlargement of liver, heart, tongue, poor muscle tone.

Front 5

Cori's D
Glycogen storage D (3)

Back 5

debranching enzyme deficiency
hypoglycemia is not too bad, 1-6 linkages can not be broken.
Liver enlargement, muscular weakness, cramps, excess fat breakdown with hyperlipidemia.

Front 6

Anderson D
Glycogen storage D (4)

Back 6

Branching enzyme deficiency
liver produces an abn glycogen w/ very long chains. Enlarged liver, cirrhosis,

Front 7

McArdle's D
Glycogen storage D (5)

Back 7

muscle phosphorylase deficiency
cannot break down muscle glycogen and have muscle cramps, weakness with exercise.

Front 8

Essential fructosuria
fructokinase deficiency

Back 8

benign

Front 9

Hereditary fructose intolerance
fructor-1-P aldolase

Back 9

F1P accumulate is toxic to liver and kidney and ties up the inorganic phosphorus needed to form ATP from ADP.
Liver enlargement, jaundice, hypoglycemia.

Front 10

Galactokinase deficiency

Back 10

galactitol accumulates and there are galactitol cataracts (lens opacities)

Front 11

Classic galactosemia

Back 11

defect in the transferase (Galactose 1-P-uridyl transferase), that allows galactose 1-P to change to UDP-galactose.
Liver damage cirrhosis, kidney failure, MR, cataracts.

Front 12

Carnitine deficiency

Back 12

carnitine transport long chain fatty acids into the mitochondria for oxidation.
fats can not be utilized for energy, muscle cramps on fasting or exercise.

Front 13

Phenylketonuria

Back 13

deficiency of phneylalanine hydroxylase
Odor, MR.

Front 14

Alkaptonuria

Back 14

defect in homogentisate oxidase
dark color urine due to hemogentisate.
Arthritis later on, OCHRONOSIS(connective tissue dark)

Front 15

Tyrosinemia

Back 15

accumulation of tyrosine.
liver and kidney dysfunction, MR

Front 16

Tyrosinase deficiency (Albinism)

Back 16

oculocutaneous albinism, ocular albinism

Front 17

Cystinuria

Back 17

cystine stores in the urine

Front 18

Hartnup's disease

Back 18

defect in transport of neutral AA.
like niacin deficiency (tryptophan is a precursor of niacin)

Front 19

Maple Syrup Urine Disease

Back 19

block in degradation of branched chain AA. Elevated leucine, isoleucine and valine in blood

Front 20

Homocysteinuria

Back 20

defect in cystathionine synthase
dislocation of lens, MR, skeletal and neurological problems.

Front 21

Ornithine transcarbamoylase deficiency

Back 21

hyperammoneumia.