生物化学（百歌医学单词USMLE）词汇表

hearing loss umbilical hernia protuberant chest macrocephaly X-linked recessive iduronidate sulfatase hepatosplenomegaly corneal clouding airway obstruction gargoylism dermatan sulfate heparan sulfate heparin keratan sulfate chondroitin sulfate hyaluronic acid L-iduronic acid L-glucuronic acid uronic acid D-galactosamine D-glucosamine amino sugar disaccharide polysaccharide unbranched ground substance component glycosaminoglycan demyelination arylsulfatase A globoid cell atrophy optic developmental delay foam cell cherry red spot neurodegeneration progressive sphingomyelin sphingomyelinase laden renal cardiovascular peripheral neuropathy ceramide trihexoside Ashkenazi Jews onion skin lysosome macula ganglioside hexosaminidase sphingolipidoses impairment neurological choreoathetosis gout hyperuricemia self-mutilation probenecid uric acid salvage degradation febuxostat allopurinol xanthine adenine hypoxanthine adenosine inosine guanosine adenosine monophosphate inosine monophosphate guanosine monophosphate guanine hypoxanthine-guanine phosphoribosyltransferase de novo synthesis macrophage phagocytic bite cell red blood cell hemoglobin Heinz body catalase glutathione peroxidase glutathione reductase tuberculosis primaquine sulfonamides fava bean oxidize hemolytic anemia peroxide free radical detoxify X-linked triose phosphate isomerase erythrose-4-phosphate transaldolase glyceraldehyde-3-phosphate transketolase xylulose-5-phosphate phosphohexose isomerase epimerase pentose phosphate pathway fructose-6-phosphate nucleotide ribose-5-phosphate reaction oxidative ribulose-5-phosphate gluconolactonase glucose-6-phosphate dehydrogenase nitric oxide cytochrome steroid ornithine transcarbamylase thrive megaloblastic anemia orotidine orotic acid phosphoribosyltransferase orotic aciduria hydroxyurea orotidylic acid decarboxylase orotate phosphoribosyltransferase orotic acid dihydroorotate dehydrogenase dihydroorotic acid carbamoyl aspartic acid aspartate transcarbamoylase citrin arginase kidney argininosuccinase argininosuccinate cytoplasm liver mitochondria argininosuccinate synthetase ornithine transcarbamoylase citrulline rate-limiting step ketoacidosis seizure lethargy dehydration vomiting poor feeding branched-chain alpha-keto acid dehydrogenase complex essential amino acids proline glutamine valine aspartate asparagine acetoacetyl CoA phosphoenolpyruvate threonine isoleucine serine leucine glucogenic ketogenic acetazolamide cystine kidney stone lysine ornithine supplement myocardial infarction stroke atherosclerosis lens subluxation kyphosis habitus marfanoid stature osteoporosis vitamin acetylcholine choline acetyltransferase choline cystathionine beta synthase phosphatidylcholine methylenetetrahydrofolate reductase methionine synthase folate cycle methylene tetrahydrofuran phosphatidylethanolamine cartilage exposed symptom asymptomatic autosomal recessive benign homogentisate phaeomelanin DOPAquinone precursor tyrosine hydroxylase dopamine responsive movement disorder dihydrobiopterin manifestation sweat urine phenylpyruvate phenylacetate phenyl ketone excrete accumulation pathogenesis cofactor tetrahydrobiopterin phenylalanine hydroxylase glutamate decarboxylase glutamate urea creatine arginine heme porphyrin glycine histamine histidine serotonin nicotinamide adenine dinucleotide phosphate nicotinamide adenine dinucleotide niacin tryptophan thyroxine derivative epinephrine homocysteine S-adenosyl methionine phenylethanolamine-N-methyltransferase vitamin B6 cystathionine synthase vitamin B12 homocysteine methyltransferase norepinephrine cystathionine tetrahydrofuran methionine dopamine cysteine glutathione dopa tyrosinase melanin phenylphruvic acid tyrosine