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Inborn errors of metabolic diseases in Malaysia: a preliminary report of maple syrup urine diseases for 1993

I Zakiah1, Y N Ashikin, S M Aisiah

  • 1Biochemistry Division, Institute For Medical Research, Jalan Pahang, Kuala Lumpur.

The Southeast Asian Journal of Tropical Medicine and Public Health
|January 1, 1995
PubMed

Insights

Inborn metabolic diseases, like maple syrup urine disease (MSUD), may cause high childhood mortality in Malaysia. HPLC confirmed amino acid disorders in 4.2% of tested children, highlighting the need for national screening.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Medical Diagnostics

Background:

  • Malaysia has improved healthcare, controlling infectious diseases.
  • Perinatal and unknown childhood diseases remain a significant cause of mortality (10.3%).
  • Inborn metabolic diseases are investigated as a potential cause of unexplained childhood deaths.

Purpose of the Study:

  • To investigate the prevalence of inborn metabolic diseases, specifically amino acid disorders, in Malaysian children.
  • To utilize high-performance liquid chromatography (HPLC) for confirming suspected cases.

Main Methods:

  • Screening of 404 samples from across Malaysia in 1993.
  • Confirmation of abnormal results from one-dimensional thin-layer chromatography using HPLC.
  • Analysis of patient demographics and clinical presentations.

Main Results:

  • 41% of confirmed cases showed generalized aminoacidurias.
  • 4.2% of confirmed cases were diagnosed with maple syrup urine disease (MSUD).
  • Affected patients ranged from 11 days to 6 years old, predominantly Malay males with MSUD-suggestive symptoms.

Conclusions:

  • Inborn metabolic diseases, particularly amino acid disorders like MSUD, are a significant concern in Malaysian pediatric mortality.
  • Further research is needed to develop investigation, management, and national screening protocols.
  • HPLC is a valuable confirmatory technique for diagnosing these disorders.

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