DEVELOPMENTAL RETARDATION ASSOCIATED WITH AN ABNORMALITY IN TYROSINE METABOLISM

Autor:	John H. Menkes, George A. Jervis
Rok vydání:	1961
Předmět:	Pediatrics Perinatology and Child Health
Zdroj:	Pediatrics. 28:399-409
ISSN:	1098-4275 0031-4005
DOI:	10.1542/peds.28.3.399
Popis:	An infant with seizures, spasticity, and failure in weight gain was shown to excrete p-hydroxyphenylpyruvic acid, p-hydroxyphenyllactic acid, and p-hydroxyphenylacetic acid, indicating the likelihood of an impairment in the oxidation of p-hydroxyphenylpyruvate. Institution of a phenylalanine-free diet coincided with marked clinical improvement and disappearance of the abnormal urinary metabolites. The cause of the temporary enzyme defect is discussed, and it is concluded that it represents a persistence into extrauterine life of the relative enzyme inactivity observed in fetal tissues.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::e5886cdad43b8262c2b421751ac363f7 https://doi.org/10.1542/peds.28.3.399 Zobrazit plný text záznamu