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11 Cards in this Set

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Discuss inborn errors:
Defects in enzymes of the urea cycle that cause hyperammonemia of varying severity. In severe defects, infants become progressively more lethargic and have tremulousness, jerking, or frank siezures.
Discuss PKU:
Disorder of amino acid metabolism in which phenylalanine cannot be converted to tyrosine, b/c of a defect in phenylalanine hydroxylase found only in the liver. causes buildup of a ketoacid. causes mousey urine and sweat, as well as 99% mental retardation in untxed pts.
Discuss Galactosemia
defect in the enzyme GALT. as a result, Galactose 1 phosphate accumulates in many locations, incliding the spleen, liver, lens of the eye, kidneys, heart, cerebral cortex, and erythrocytes. Autosomal recessive.
Discuss Homocysteinuria
metabolic disorder due to cystathionine beta synthase deficiency producing increased urinary homocystiene and methionine. major clin manifestations are in the eyes and the CNS, skeletol, and vascular systems. Autosomal recessive
Lesch-Nyhan dx
complete deficiency of the enzyme of purine metabolism, HGPRT.
Genetically determined disease in which mucopolysaccharides primarily dermatan sulfate, heparin sulfate, and keratin sulfate are stored in tissues and excreted in large amounts in the urine. results in problems with morphogenesis
Glycogen storage disease
10 different disorders of glycogen synthesis and breakdown have been described. in hepatic forms, dx is suggested by growth failure and heptomegaly with tendency to fasting hypoglycemia.
Tay-sachs dx
metabolic error is abnormal storage of ganglioside in lysosomes in the cells of the NS.
Describe the importance and the practice of genetic tests
1. Care of ill and prevention of dx
2. Provision of reproductive information
3. enumeration
4. Research purposes
Discuss clinical clues that might suggest a pt has an inborn error of metabolism
Dysmorphic features, Deafness, self mutilation, abnormal hair, abnormal body odor/urine, hepatosplenomegaly, hydrops, hypo/hypertonia,persistant lethargy, siezures, Poor Feeding, Recurrent vomiting, Jaundice, Cataracts, Cherry red macula, Dislocated lens, Glaucoma, Myopathy, Abnormal Motility
Treatment options for Inborn Errors of Metabolism
Treat the symptoms of the errors, as the dx may not be curable. Treat hypoglycemia, acidosis, electrolyte abnormalities, restrict intake of offending substance,