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FA: Enzyme def

enzyme deficiency disorders - biochem chapter

DisorderDef/problem enzyme/proteinSymptoms
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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