Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: an eight-year experience.

Abstract

BACKGROUND:

Amino acid disorders are a major group of inborn errors of metabolism (IEM) with variable clinical presentations. This study was aimed to provide the data of amino acid disorders detected in high-risk Thai patients referred to our metabolic lab from all over the country.

METHODS:

From 2001 to 2009, we analyzed amino acids by HPLC in 1214 plasma and cerebrospinal fluid specimens. These specimens were obtained from patients with clinical suspicion of IEM or with positive newborn screening. The clinical data of the patients with confirmed diagnoses of amino acid disorders were also analyzed.

RESULTS:

Fifty-eight patients were diagnosed with amino acid disorders, including 20 cases (34.5%) with maple syrup urine disease, 13 (22.4%) with phenylketonuria and hyperphenylalaninemia, 13 (22.4%) with nonketotic hyperglycinemia, 9 (15.5%) with urea cycle defects, 2 (3.4%) with classical homocystinuria, and 1 (1.7%) with ornithine aminotransferase deficiency. There was considerable delay in diagnoses which led to poor outcomes in most patients.

CONCLUSION:

The prevalence of amino acid disorders in Thailand is distinct from other countries. This will guide the selection of the prevalent IEM for the future expansion of newborn screening program in this country.

• Authors: Nithiwat Vatanavicharn, Pisanu Ratanarak, Somporn Liammongkolkul, Achara Sathienkijkanchai, Pornswan Wasant
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 413 Issue 13-14 Pg. 1141-4 (Jul 11 2012) ISSN: 1873-3492 [Electronic] Netherlands
• PMID: 22465081 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Elsevier B.V. All rights reserved.

Chemical References

• Amino Acids

Topics

• Adult
• Amino Acid Metabolism, Inborn Errors (blood, cerebrospinal fluid, diagnosis)
• Amino Acids (blood, cerebrospinal fluid)
• Child
• Child, Preschool
• Chromatography, High Pressure Liquid
• Female
• Humans
• Infant
• Infant, Newborn
• Male
• Thailand
• Young Adult