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48 Cards in this Set

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  • Back
Peroxisomes
Zellweger syndrome
a-1,6-glucosidase
Cori's - GSD type III
a1-antitrypsin
Panacinar emphysema
a-Galactosidase A
Fabry's
a-ketoacid dehydrogenase
Maple syrup urine
a-L-Iduronidase
Hurler's
11-b-hydroxylase deficiency
Congenital adrenal hyperplasia:

- decreased Aldosterone
- decreased Cortisol
- Increased Androgens (DHEA)

(Increased BP - weak mineralcorticoid works)
17-a-hydroxylase deficiency
Congenital adrenal hyperplasia:

- Increased Aldosterone
- decreased Cortisol
- decreased Androgens (DHEA)
21-hydroxylase deficiency
Congenital adrenal hyperplasia:

- decreased Aldosterone
- decreased Cortisol
- Increased Androgens (DHEA)

(decreased BP)
5a-reductase deficiency
causes a lack of DHT
(& increase in Testosterone)
Adenosine deaminase deficiency
Severe Combined Immunodeficiency
Cystathionine synthetase
Homocystinuria
Galactose-1-phos uridyl transferase
Galactosemia
Glucocerebrosidase
Gauchers
Glucose-6-phosphatase
Von Gierke's - GSD type I
Hexosaminidase
Tay-Sachs
HGPRTase
Lesch-Nyhan
Homogentisic acid oxidase
Alkaptonuria
Lactase
Lactose intolerence
L-Iduronosulfate sulfatase
Hunter's
Lysosomal acid maltase
Pompe's - GSD type II
Lysosomal hydrolase deficiency
Mucopolysaccharidoses
Muscle phosphorylase
McArdle's - GSD type V
NADPH oxidase deficiency
Chronic Granulomatous Disease
Phenylalanine hydroxylase
Phenylketonuria [PKU]
Superoxide dismutase
Amyltropic Lateral Sclerosis
Sphingomyelinase
Niemann-Pick
Tyrosinase increase
Albinism
Tyrosinase deficiency
Vitiligo
UDP gluronyl transferase
(2)
- Gilbert's
- Crigler-Najjar
Uroporphyrinogen synthase
or
PBG deaminase
Acute intermittent porphyria
b amyloid
Alzheimer's
Ankyrin &/or Spectrin
Hereditary Spherocytosis
CFTR
Cystic fibrosis
Crystallins
Cataracts
Dystrophin
Duchenne's muscular dystrophy
Factor VIII
Classic hemophilia (Hem. A)
Fibrillin
Marfan
Insulin receptor
Leprechaunism
LDL receptor
familial Hypercholesterolemia
Prion
Creutzfeldt-Jakob
Procollagen
Osteogenesis imperfecta
Rhodopsin
Retinitis pigmentosa
dipalmitoyl phosphatidylcholine
Respiratory Distress Syndrome
(surfactant)
Transthyretin
Cardiac amyloidosis
Amyloid-Associated Protein
Chronic Infammatory conditions causing amyloidosis
Amyloid light chain
(2)
- Multiple myeloma
- B-cell problems
Beta-2-microglobulin
Amyloidosis due to long term Hemodialysis