Some Biochemical Effects of Chloral Hydrate in an Infant with a Tyrosinemia-like Syndrome
| Autor: | R. A. Chalmers, Alexander M. Lawson, M M Liberman, R. W. E. Watts |
|---|---|
| Rok vydání: | 1975 |
| Předmět: |
medicine.medical_specialty
Phenylpyruvic Acids Phenylalanine Chloral hydrate Ascorbic Acid 4-Hydroxyphenylpyruvate Dioxygenase Tyrosinemia Methionine In vivo Internal medicine medicine Humans Chloral Hydrate Tyrosine Phenylacetates Homogentisate 1 2-dioxygenase Chemistry Infant Syndrome medicine.disease Ascorbic acid Endocrinology Biochemistry In utero Pediatrics Perinatology and Child Health Lactates Oxygenases Female Hydrocephalus medicine.drug |
| Zdroj: | Pediatric Research. 9:875-878 |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-197512000-00001 |
| Popis: | Extract: An infant with a combination of clinical and biochemical features resembling those found in hereditary tyrosinemia (“inborn hepatorenal dysfunction with tyrosyluria”) but with spontaneous recovery is described briefly. The child also had severe congenital hydrocephalus, and was being given chloral hydrate. She was not treated by restriction of dietary phenylalanine and tyrosine. The abnormal aromatic aciduria was unaltered by ascorbic acid administration. The results of loading tests with phenylalanine, tyrosine, and sodium 4-hydroxyphenylpyruvate are compatible with the existence of a partial block in the oxidation of 4-hydroxyphenylpyruvate to homogentisate which was exacerbated by administering chloral hydrate. Speculation: It is suggested that an abnormality of the patient's 4-hydroxy-phenylpyruvate dioxygenase (EC. 1.13.11.27) system rendered it susceptible to inhibition by chloral hydrate or its metabolites in vivo. Such an abnormality could be due to a genetically determined abnormality of the enzyme protein or exposure to an unidentified infective or toxic agent in utero. |
| Databáze: | OpenAIRE |
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