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FA: Enzyme def
enzyme deficiency disorders - biochem chapter
| Disorder | Def/problem enzyme/protein | Symptoms |
|---|---|---|
| Orotic aciduria | orotic acid phosphoribosyltransferase or orotidine 5'-phosphate decarboxlase | megaloblastic anemia that doesn't improve with b12, orotic acid in urine, FTT |
| Lesch Nyhan syndrome | HGPRT | MR, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis |
| Ehler Danlos | Type III Collagen | hyperextensible skin, tendency to bleed, hypermobile joints |
| Osteogenesis imperfecta | Type I Collagen | Multiple fractures, Blue sclera, Hearing loss, Dental imperfections |
| Alport's syndrome | Type IV Collagen | Progressive nephritis, deafness, ocular disturbances |
| Marfan's | fibrillin | |
| G6PD deficiency | glucose-6-phosphate-dehydrogenase | hemolytic anemia, hemolysis, heinz bodies |
| Essential fructosuria | Fructokinase | fructose in blood and urine, asymptomatic |
| Fructose intolerance | Aldolase B | Hypoglycemia, Jaundice, Cirrhosis, Vomiting |
| Galactokinase deficiency | galactokinase | galactose in blood and urine, infantile cataracts (baby can't track or l/o social smile) |
| Classic Galactosemia | galactose-1-phosphate uridyltransferase | FTT, jaundice, hepatomegaly, infantile cataracts, MR |
| Lactase deficiency | Lactase | bloating, cramps, osmotic diarrhea |
| Ornithine Transcarbamoylase (OTC) deficiency | OTC | hyperammonemia: tremor, slurring of speech, somnolence, vomiting, cerebral edema, blurred vision, decreased BUN, orotic acid in blood and urine |
| Phenylketonuria | phenylalanine hydroxylase or tetrahydrobiopterin cofactor | MR, growth retardation, seizures, fair skin, eczema, msty body odor |
| Maternal PKU | phenylalanine hydroxylase or tetrahydrobiopterin cofactor in mama | microcephaly, MR, growth retardation, congenital heart defects in infant |
| Alkaptonuria | homogentisic acid oxidase | dark CT, brown pigmented sclera, urine turns black on standing |
| Albinism | Tyrosinase or defective tyrosine ransporters | pale, increased risk of skin cancer |
| Homocystinuria | Cystathionine synthase or decreased affinity or cystathionine synthase for pyridoxal phosphate or homocystein methyltransferase deficiency | MR, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis, inc. homocysteine in urine |
| Cystinuria | defect of renal tubular AA transporter of COLA in PCT of kidneys | Cystine Kidney stones (cystine staghorn calculi) |
| Maple Syrup Urine Disease | decrease alpha ketoacid dehydrogenase | severe CNS defects, mental retardation, death |
| Hartnup disease | defective neutral AA transporter on renal and intestinal epithelial cells | pellagra |
| Von Gierke's (GSD I) | Glucose 6 phosphatase | Sever fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly, increased uric acid |
| Pompe's (GSD II) | Lysosomal alpha-1,4-glucosidase | Cardiomegaly and systemic findings leading to death by age 3 |
| Cori's (GSD III) | debranching enzyme: alpha 1,6 glucosidase | mild Von Gierkes, nL lactate |
| McArdle's (GSD V) | skeletal muscle glycogen phosphorylase | increased glycogen in muslce, muscle cramps, myoglobinuria with strenuous exercise |
| Fabry's | alpha glactosidase A | peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease |
| Gaucher's | beta-glucocerebrosidase | Hepatosplenomegaly, aseptic necrosis of femur, bone crisis |
| Niemann-Pick | spingomyelinase | progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells |
| Tay-Sachs | Hexosaminidase A | Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, NO hepatosplenomegaly |
| Krabbe's | Galactocerbrosidase | Peripheral neuropathy, develpmental delay, optic atrophy, globoid cells |
| Metachromatic leukodystrophy | Arylsulfatase A | Central and peripheral demyelination with ataxia, dementia |
| Hurler's | alpha-L-iduronidase | Developmental dely, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
| Hunter's | Iduronate sulfatase | mild hurler's plus aggressive behavior, NO corneal clouding |
| inability to transport LCFAs into the mitochondria | Carnitine deficiency | weakness, hypotonia and hypoketotic hypoglycemia |
| Dyslipidemia I - hyperchylomicronemia | Lipoprotein lipase or apolipoprotein C-II | Pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas |
| Dyslipidemia IIa- familial hypercholesterolemia | absent LDL receptors | accelearted atherosclerosis, tendon xanthomas, corneal arcus |
| Dyslipidemia IV - hypertriglyceridemia | VLDL OVERproduction | pancreatitis |
| Abetalipoproteinemia | apoB-100 and apoB-48 | FTT< steatorrhea, acanthocytosis, ataxia, night blindness |
| SCID | adenosine deaminase | recurrent infections due to both B and T cell deficiency |
Created by:
kayjames
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