Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry

We had studied inherited metabolic disorders at the Department of Pediatrics, Siriraj Hospital Faculty of Medicine, Mahidol University since 1987 using limited resources available and collaboration with other laboratories, both in Thailand and The United States. Since April 1998, we started a collab...

Full description

Saved in:
Bibliographic Details
Published inSoutheast Asian journal of tropical medicine and public health Vol. 30 Suppl 2; pp. 160 - 165
Main Authors Wasant, P, Matsumoto, I, Liammongkolkul, S
Format Journal Article
LanguageEnglish
Published Thailand 1999
Subjects
Female
Gas Chromatography-Mass Spectrometry
Humans
Infant
Male
Metabolism, Inborn Errors - diagnosis
Thailand
Urinalysis - methods
Thailand
Online AccessGet full text

Cover

More Information
Summary:We had studied inherited metabolic disorders at the Department of Pediatrics, Siriraj Hospital Faculty of Medicine, Mahidol University since 1987 using limited resources available and collaboration with other laboratories, both in Thailand and The United States. Since April 1998, we started a collaboration with MILS and Kanazawa Medical University, the Japan, studying inborn errors of metabolism in Asian Countries using urine filter paper and a new GC/MS method. We have since successfully discovered several patients with metabolic disorders. Out of 33 (high-risk) cases we sent for biochemical diagnosis (during April-July 1998), 13 abnormal results were found which is approximately 39.4%. Inherited metabolic disorders identified were as follows: medium-chain acyl CoA dehydrogenase deficiency (MCAD), multiple carboxylase deficiency (MCD), methylmalonic acidemia (MMA), Fanconi syndrome, galactosemia and neuroblastoma.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0125-1562