| Literature DB >> 15168722 |
M Swarna1, A Jyothy, P Usha Rani, P P Reddy.
Abstract
A screening program was carried out for amino acid disorders in children with mental handicaps from the state of Andhra Pradesh (India) during the last two decades. Forty-one (0.9%) cases were detected with amino acid disorders among 4500 children surveyed. We reported amino acid disorders of rare occurrence such as dicarboxylic aminoaciduria, hydroxykynureninuria, persistent hypertyrosinemia, hydroxyprolinemia, hypervalinemia, etc. A new metabolic defect threoninemia was also detected. We have observed a preponderance of males with amino acid disorders. Parental consanguinity was present in 54% of cases with amino acid disorders.Entities:
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Year: 2004 PMID： 15168722 DOI： 10.1023/b:bigi.0000020464.05335.79
Source DB: PubMed Journal: Biochem Genet ISSN： 0006-2928 Impact factor: 1.890