Biochemical Studies of a Patient with Hereditary Hepatorenal Tyrosinemia: Evidence of Glutathione Deficiency
作者:
ELIZABETH STONER,
HAROLD STARKMAN,
DANIEL WELLNER,
VAIRA WELLNER,
SHIGERU SASSA,
ARLEEN RIFKIND,
ANDRE GRENIER,
PETER STEINHERZ,
ALTON MEISTER,
MARIA NEW,
LENORE LEVINE,
期刊:
Pediatric Research
(OVID Available online 1984)
卷期:
Volume 18,
issue 12
页码: 1332-1336
ISSN:0031-3998
年代: 1984
出版商: OVID
数据来源: OVID
摘要:
Metabolic and enzymatic studies in a patient with hereditary tyrosinemia demonstrated for the first time a deficiency of erythrocyte and hepatic glutathione. Markedly decreased hepatic fumarylacetoacetate hydrolase activity was demonstrated in this patient. The activities of hepatic enzymes not involved in tyrosine metabolism were also determined. Assay of mixed function oxidase activity demonstrated low levels of aryl hydrocarbon hydroxylase and 7-ethoxycoumarin deethylase, suggesting decreased hepatic detoxification capacity. 5-Aminolevulinic acid dehydratase activity was undetectable. Succinylacetone (4,6- dioxoheptanoic acid), an abnormal metabolic product secondary to fumarylacetoacetate hydrolase deficiency was found in serum and urine. Succinylacetone was demonstrated to inhibit 5-aminolevulinic acid dehydratase in vitro, as did the urine, plasma, and red cell Iysates of the patient.
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