Term
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Definition
| Lysosomal storage disease, lysosomal glucosidase, glycogen, type II |
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Term
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Definition
| Lysosomal storage disease, hexosaminidase A, GM2 ganglioside |
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Term
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Definition
| Lysosomal storage disease, glucocerebrosidase, glucocerebroside |
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Term
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Definition
| Lysosomal storage disease, sphingomyelinase, sphingomyelin |
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Term
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Definition
| Lysosomal storage disease, a-L-iduronidase, heparan sulfate and dermatan sulfate |
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Term
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Definition
| Lysosomal storage disease, but defect in golgi, actual deficiency is glucose aminoglycan phosphotransferase, mannose-6-phosphate tag isn't put onto lysosomal enzymes (acid hydrolyases), similar to hurler disease, but has characteristic inclusion bodes |
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Term
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Definition
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Term
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Definition
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Term
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Definition
| blood urea nitrogen rises sharply in renal failure |
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Term
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Definition
| results from a deficiency of fructokinase in the liver |
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Term
| Hereditary fructose inolerance |
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Definition
| deficiency of fructose-1-p aldolase of liver, kidney cortex, and small intestine |
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Term
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Definition
| GALT, loss of uridylyltransferase |
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Term
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Definition
| GALK, loss of galactokinase, can lead to blindiness, lactose intolerant |
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Term
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Definition
| GALE, 2 forms, one similar to tranferase deficiency |
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Term
| glucose-6-phosphate dehydrogenase |
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Definition
| No NADPH production in rbc. rbc can't handle additional oxidative stress from drugs or food items |
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Term
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Definition
| glucose-6-phospahte dehyrdogenase deficiency, bilirubin is a neurotoxin, treatment is bili-lights (460-490nm), converts bilirubin to lumirubin whichis water-soluble photoisomer and can't enter CNS and is excreted |
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Term
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Definition
| G6PD deficiency, induced by certain oxidative drugs, fava beans, or infections, |
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Term
| Type 0 Glycogen storage disease |
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Definition
| Deficiency of glycogen synthase, liver glycogenoses |
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Term
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Definition
| type I glycogen storage disease, glucose-6-phosphate |
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Term
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Definition
| type III glycogen storage disease, glycogen debranching enzyme |
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Term
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Definition
| type VI glycogen storage disease, glycogen phosphorylase |
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Term
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Definition
| glycogen storage disease, glycogen phosphorylase kinase (7 subtypes) |
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Term
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Definition
| Type XI, glut-2-transporter, liver |
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Term
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Definition
| Type IV, glycogen branching enzyme, live |
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Term
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Definition
| Type V, glycogen phosphorylase, muscle |
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Term
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Definition
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Term
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Definition
| deficiency of protein in a diet that is adequate in calories. Distended abdomen bc increase in interstitial fluid |
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Term
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Definition
| Genetic defect in the function of chloride channels present in the pancreatic secretory ducts, causes inspissations of pancreatic exocrine secretions. Treated with supplementation of pancreatic enzymes wiht meals |
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Term
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Definition
| Genetic defect in transport system responsible for transport of cystine and the basic amino acids, lysine, arginine, and orithine. Causes kidney stones bc of insolubility of cystine |
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Term
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Definition
| Genetic defect in the transport of neutral amino acids across both intestinal and renal epithelial cells |
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Term
| Schizophrenia and biopolar disease |
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Definition
| Altered transport of tyrosine and tryptophan, which are precursors of dopamine and serotonin |
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Term
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Definition
| BUN (blood urea nitrogen), rises sharply with renal failure |
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Term
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Definition
| Plasma urea levels are higher which leads to greater transfer of urea from the blood into the intestine, making urease more active. Neomycin reduces number of bacteria. Affects CNS. Not from arginiase deficiency, but other urea cycle deficiencies. Treat with sodium benzoate, phenyl acetate, arginine |
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Term
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Definition
| darkening of urine, deficient catabolism of phenylalanine and tyrosine |
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Term
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Definition
| mutation of renal amino acid transporter of dibasic amino acids such as cysteine |
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Term
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Definition
| caused by mutations in glycine enzymes of the mitochondria (P, T, or H enzyme) |
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Term
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Definition
| histidine-ammonia lyase deficiency, considered a benign disorder |
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Term
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Definition
| Cystathionine B-synthase deficiency, dislocation of lenses or thromboembolic events or osteoporosis or mental retardation, can treat with pyroxidine or limit methionine. At least 7 causes of this disease |
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Term
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Definition
| a-aminoadipic semialdehyde synthase deficiency (enxyme catalyzes 2 steps in lysine degradation) |
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Term
| Maple Syrup Urine Disease |
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Definition
| branched-chain a-keto acid dehydrogenase (BCKD) deficiency, urnine smells like burnt sugar |
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Term
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Definition
| Methylmalonyl-CoA Mutase (MUT) deficiency, defects possible in Vit B12 metabolism, but don’t respond to B12 supplementation, wide clinical spectrum |
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Term
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Definition
| phenylalanine hydroxylase deficiency, phenylalanine accumulates bc cant be converted to tyrosine |
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Term
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Definition
| fumarylacetoacetase deficiency, accumulation of tyrosine succinylacetone |
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Term
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Definition
| tyrosine transaminase deficiency |
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Term
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Definition
| 4-hydroxyphenylpyruvate dioxygenase deficiency |
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Term
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Definition
| mutations in SLC6A19 gene, not in US |
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Term
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Definition
| mutation in gene for mitochondrial ornithine transporter |
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Term
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Definition
| Bilirubin-UDP-glucuronyltransferase deficiency, mutations in TATA box |
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Term
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Definition
| – Bilirubin-UDP-glucuronyltransferase deficiency |
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Term
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Definition
| – mutations in bile canalicular multispecific transporter |
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Term
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Definition
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Term
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Definition
| – deficiency of hypoxanthine-guanine… |
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Term
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Definition
| – adenosine deaminase deficiency, first disease for somatic cell gene therapy, and enzyme replacement therapy |
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Term
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Definition
| Mutations of rhodopsin, disease of night blindness due to apoptosis of rod photoreceptor cells |
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Term
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Definition
| deficiency of alpha-fucosidase, autosomal recessive, glycogen storage disease |
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Term
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Definition
| alpha-mannosidase deficiency, glycogen storage disease |
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Term
| Aspartylglucosaminuria (AGU) |
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Definition
| deficiency of N-aspartyl-beta-glucosaminidase, glycogen storage disease |
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Term
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Definition
| iduronate sulfatase, heparan and dermatan sulfate accumulate |
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Term
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Definition
| defieciency in galactose-6-sulfatase or B-galactosidase, accumulation of keratan sulfate |
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Term
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Definition
| accumulation of heparan sulfate |
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Term
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Definition
| a-galactosidase A, accumulation of ceramide trihexoside |
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Term
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Definition
| B-galactosidase, galactocerebroside |
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