The Clinical Practice Guidelines on Management of Neonatal Jaundice 2003 was updated by a multidisciplinary development group and approved by the Ministry of Health Malaysia in 2014. A systematic review of 13 clinical questions was conducted using evidence retrieved mainly from Medline and Cochrane databases. Critical appraisal was done using the Critical Appraisal Skills Programme checklist. Recommendations were formulated based on the accepted 103 evidences and tailored to local setting as stated below.

We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare inborn error metabolism was found when the elder sibling presented with an episode of severe ketoacidosis at 20 months of age, which consisted of excessive excretion of ketones, tiglylglycine, 2-methyl-3-hydroxybutyrate, and 2-methylacetoacetate. Blood acylcarnitiness profile showed elevation of C5OH-carnitine, which represents 2-methyl-3-hydroxybutyrylcarnitine. A similar biochemical profile was identified in the younger sibling during screening although he had only mild clinical symptoms. Both patients reported a favourable outcome on follow-up.
2-methylacetoacetyl-coenzyme A ; deficiency ; Acetyl-CoA C-Acetyltransferase ; Biochemical ; Siblings