Diseases_of_metabolism.csv

glycogen storage disease - type I; involves deficiency in glucose-6-phosphatase; affects liver

glycogen storage disease - type II; involves deficiency in alpha 1-4-glycosidase; affects all lysosomes

glycogen storage disease - type III; involves deficiency in debrancher enzyme & amylo-1-6-glycosidase; affects all organs

glycogen storage disease - type IV; involves deficiency in branching enzyme; affects liver & other organs

glycogen storage disease - type V; involves deficiency in muscle phosphorylase; affects muscle

glycogen storage disease - type VI; involves deficiency in liver phosphorylase; affects liver

glycogen storage disease - type VIII; involves deficiency in phosphorylase kinase; affects liver

lysosomal storage disease; results from a defective phsophotranferase (Golgi enzyme); prevents Golgi from targeting lysosomal protein to the lysosome; results in secretion of lysosomal proteins into the plasma

mucopolysaccharidosis (LSD); results from iduronic acid-II-sulfatase deficiency; X-linked; interferes with breakdown of GAGs

mucopolysaccharidosis (LSD); results from alpha-iduronidase deficiency; autosomal recessive; results in accumulation of GAGs

mucopolysaccharidoses (LSD); results from deficiency in beta-glucoronidase; autosomal recessive; results in accumulation of GAGs

lysosomal storage disease; autosomal recessive; results from deficiency in beta-hexosaminidine A; results in accumulation of glycosphingolypids

lysosomal storage disease; autosomal recessive; results from deficiency in beta-glucoceramididase; results in accumulation of glycosphingolipids

lysosomal storage disease; results from deficiency in beta-galactoceramididase; results in accumulation of glycosphingolipids

lysosomal storage disease; results from deficiency in beta-N-acetylhexoaminidase; results in accumulation of glycosphingolipids

lysosomal storage disease; results from deficiency in alpha-galactosidase; results in accumulation of glycosphingolipids

congenital disorders of glycosylation; subset of genetic defects primarily affecting N-glycan assembly; involve inability to synthesize precursors (ER deficiency); patients generally diagnosed by altered electrophoretic mobility of plasma transferrin (usually glycosylated)

mucopolysaccharidoses (LSD); result from deficiencies in enzymes necessary to break down heparin sulfate; autosomal recessive; results in accumulation of GAGs

congenital disorders of glycosylation; subset of genetic defects primarily affecting N-glycan assembly; involve inability to modify existing proteins (Golgi deficiency); patients generally diagnosed by altered electrophoretic mobility of plasma transferrin (usually glycosylated)

ALT/SGPT - elevated in viral hepatitis & liver cell necrosis & circulatory collapse; AST/SGOT - elevated 6-8h post-MI & in biliary/alcoholic cirrhosis & liver cancer & pancreatitis & mononucleosis & strenuous exercise

phenylketonuria; results from deficiency in BH4 or phenylalanine hydroxilase (PAH); prevents conversion of Phe -> Tyr; Tyr important in protein synthesis & DOPA synthesis & fumerate/acetoacetate production

maple syrup urine disease; results from BCKD deficiency (branched-chain-keto-acid-dehydrogenase is important in the breakdown of branched amino acids); results in toxic buildup of Leu & Ile & Val; excreted urine high in branched-chain AAs and has a characteristic smell

results in lack of THF (which provides single-carbon groups for protein synthesis & formation of red blood cells & cell growth/division); can -> neural tube defects such as spina bifida

results from deficiency in GCC (glycine cleavage complex) -> inability to cleave glycine; causes accumulation of glycine

adrenoleukodystrophy; X-linked recessive disorder; prevents beta-oxidation of VLFA chains by preventing their transfer to peroxisomes

results from high levels of uric acid -> crystals; can be treated with allopurinol - inhibits xanthine oxidase activity and thus prevents conversion of hypoxanthine to uric acid

occurs in many obese patients; mechanisms unknown; only 10% of obesity patients can be treated with leptin

associated with obesity; involves glucose intolerance & insulin resistance & dyslipidemia & hypertension & increased oxidative stress

causes increased activity of hormone-sensitive lipase in adipose tissue -> increased FFA availability -> increased TAG production

intoxication; energetic; complex molecule