Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations

Autor:	Faeze Khaghani, Peyman Eshraghi, Tayebeh Hamzehloei
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	endocrinology and metabolic disorders genetics and genomics health informatics pathology and laboratory medicine pediatrics and adolescent medicine Medicine Medicine (General) R5-920
Zdroj:	Clinical Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)
Druh dokumentu:	article
ISSN:	2050-0904 92541178
DOI:	10.1002/ccr3.8598
Popis:	Key Clinical Message Phenylketonuria (PKU) is a hereditary disorder caused by phenylalanine hydroxylase enzyme (PAH) defects that might cause severe brain damage. The current main treatment, dietary management, can prevent the symptoms if commenced early. However, it has side effects if used for a long time. Additionally, some patients with mild hyperphenylalaninemia (mHPA), who has serum phenylalanine levels
Databáze:	Directory of Open Access Journals
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