Open AccessDemographic and clinical characteristics of the children with aminoacidopathy in Isfahan Province, Central Iran in 2007-2015
Author(s) -
Rezvan Najafi,
Mahin Hashemipour,
Omid Yaghini,
Fatemeh Najafi,
Amirsalar Rashidianfar
Publication year - 2016
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/2230-8210.190556
Subject(s) - medicine , maple syrup urine disease , pediatrics , context (archaeology) , referral , population , prevalence , disease , socioeconomic status , incidence (geometry) , consanguinity , environmental health , family medicine , paleontology , biochemistry , physics , amino acid , optics , biology , chemistry , leucine
Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence rates, screening infants for inherited metabolic disorders is not run in many Middle East countries.