Abstract
Organic acidemias (OAs) have been detected worldwide in symptomatic patients using
gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis
of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic
acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases),
ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency
(15 cases). For these 188 patients, onset was most frequent in the neonatal period
or early infancy. Approximately 30% of the patients had a family history of similar
symptoms or diseases. Although the outcome of OA patients varied, patients with early
onset generally had poor outcomes despite early detection. Of the 45 MMA patients
whose clinical data were available, 25 were clinically vitamin B12-responsive, while
the remaining 20 were non-responsive. A favorable outcome was obtained in 7 of the
25 B12-responsive patients, and in only 3 of the 20 B12-nonresponsive patients. It
was suggested that even in B12-responsive MMA cases, earlier detection and B12 therapy
were needed to improve the prognosis. We concluded that detection of such patients
at the presymptomatic stages using newborn mass screening is essential for prognosis
improvement with OAs.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Brain and DevelopmentAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system.Tohoku J Exp Med. 1999; 188: 317-334
- Simplified screening for organic acidemia using GC/MS and dried filter paper: a study on neonatal mass screening.Early Hum Dev. 2000; 58: 41-55
- Gas chromatographic–mass spectrometric screening for organic acidemias using dried urine filter paper: determination of α-ketoacids.J Chromatogr B. 2001; 758: 87-94
- Urinary organic acids in peroxisomal disorders: a simple screening method.J Chromatogr B. 2001; 758: 81-86
- Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode.J Chromatogr B. 2000; 746: 75-82
- A survey of Japanese patients with mitochondrial fatty acid β-oxidation and related disorders as detected from 1985 to 2000.Brain Dev. 2002; 24: 675-680
- Isovaleric acidemia: a new genetic defect of isoleucine metabolism.Proc Natl Acad Sci USA. 1966; 56: 236-242
- Incidence of inborn errors of metabolism in British Columbia, 1969–1996.Pediatrics. 2000; 105: e10
- Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey.J Pediatr. 2000; 140: 321-327
- Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program.J Pediatr. 1999; 134: 675-680
- Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.J Child Neurol. 1999; 14: S4-S8
- Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium.Acta Paediatr Suppl. 1999; 432: 45-47
- Newborn screening with tandem mass spectrometry: 12 months experience in NSW Australia.Acta Paediatr Suppl. 1999; 88: 48-51
- Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.Clin Chem. 2001; 47: 1945-1955
- Tandem mass spectrometry and newborn screening: pilot data and review.Pediatr Neurol. 2002; 26: 201-204
- A pilot study of neonatal screening by electrospray ionization tandem mass spectrometry in Taiwan.Acta Paediatr Taiwan. 2001; 42: 224-230
Article info
Publication history
Accepted:
April 13,
2004
Received in revised form:
April 13,
2004
Received:
August 18,
2003
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
