Metabolic Diseases - I

Enzyme Deficiency

Disease

Notes

Peroxisomes

Zellweger syndrome

C24:0, C25:0, C26:0

alpha -1,6-glucosidase

Cori's - GSD type III

debranching enzyme

alpha1-antitrypsin

Panacinar emphysema

alpha-Galactosidase A

Fabry's

ceramide trihexoside, renal failure

alpha-ketoacid dehydrogenase

Maple syrup urine

poor debranching of AA

alpha-L-Iduronidase

Hurler's

heparin sulfate

11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia

salt / water saver, HTN suppresses AT II / aldosterone

17-beta-hydroxylase deficiency

Congenital adrenal hyperplasia

HTN, sex hormones, cortisol

21-hydroxylase deficiency

Congenital adrenal hyperplasia

salt waster (aldosterone), hypotension

3 beta- hydroxysteroid

Congenital adrenal hyperplasia

salt losing, aldosterone, glucocorticoids

5 alpha-reductase deficiency

penis-at-12 syndrome

lack of DHT yields ambiguous genitalia

7-dehydrocholesterol reductase

Smith-Lemli-Opitz syndrome

Defective cholesterol & bile acid synthesis. [Vitamin D]

Adenosine deaminase deficiency

Severe Combined Immunodeficiency

First disease treated with gene therapy. Bubble boy.

Cystathionine synthetase

Homocystinuria

Marfan's like

G6PD

G6PD deficiency

hemolytic anemia, Heinz bodies, MPO

Galactose-1-phos uridyl transferase

Galactosemia

Galactose-1-phosphate. Cataracts.

Glucocerebrosidase

Gaucher’s

glucocerebroside, crinkled paper cytoplasm

Glucose-6-phosphatase

Von Gierke's - GSD type I

hepatomegaly

Hexosaminidase

Tay-Sachs

GM2 gangliosidase; cherry red spot on macula; Jews

HGPRTase

Lesch-Nyhan

Uric acid. Purine salvage pathway.

Homogentisic acid oxidase

Alkaptonuria

Homogentisic acid; black urine, joints, cartilage.

Lactase

Lactose intolerance

L-Iduronosulfate sulfatase

Hunter's

heparin sulfate; mild Hurler's

Lysosomal acid maltase

Pompe's - GSD type II

Cardiomegaly w heart failure at early age.

Lysosomal hydrolase deficiency

Mucopolysaccharidoses

Accumulation of GAGs.

Muscle phosphorylase

McArdle's - GSD type V

Pain cramps w exercise. Rhabdomyolysis.

NADPH oxidase deficiency

Chronic Granulomatous Disease

Myeloperoxidase prob. Catalase (+) Staph infections.

PBG deaminase

Acute intermittent porphyria

Heme synthesis.

Phenylalanine hydroxylase

Phenylketonuria [PKU]

Phenylalanine, have blonde hair due to  melanin.

Superoxide dismutase

Amyotrophic Lateral Sclerosis

Lou Gehrig's Disease. Ascending neuropathy.

Sphingomyelinase

Niemann-Pick

Sphingomyelin; die by 3yo

Tyrosinase

Albinism

Tyrosinase deficiency

Vitiligo

UDP gluuronyl transferase

Gilbert's

Crigler-Najjar

Unconjugated hyperbilirubinemia.

Uroporphyrinogen decarboxylase

Porphyria cutanea

Most common porphyria. Familial.

Uroporphyrinogen synthase

Acute intermittent porphyria