Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests

Autor:	M. Spada, J. Bardet, Ornella Guardamagna, Alberto Ponzone, P. Parvy, J. M. Saudubray, D. Rabier, S.B. van der Meer
Rok vydání:	1994
Předmět:	Male medicine.medical_specialty Pediatrics Heterozygote Allopurinol Ornithine transcarbamylase Child Behavior Disorders Ornithine Carbamoyltransferase Internal medicine Medicine Humans Diagnostic Errors Amino Acid Metabolism Inborn Errors Ornithine transcarbamylase deficiency business.industry medicine.disease Ornithine Carbamoyltransferase Deficiency Disease Endocrinology El Niño Urea cycle Child Preschool Pediatrics Perinatology and Child Health Dietary Proteins business Challenge tests Protein loading medicine.drug
Zdroj:	The Journal of pediatrics. 125(2)
ISSN:	0022-3476
Popis:	Recurrent episodes of bizarre behavior were the only clinical symptoms that finally led to the diagnosis of ornithine transcarbamylase deficiency in an 8-year-old boy. The suspected diagnosis could not be confirmed with the use of current challenge tests. The response to a high-protein diet for 24 hours appeared to be a helpful diagnostic aid. (J P EDIATR 1994;125:249-51)
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05451a9fd31908c3397fc97e0768994c https://pubmed.ncbi.nlm.nih.gov/8040774 Zobrazit plný text záznamu