Abstract
The Journal is the primary organ of Continuing Paediatric Medical Education in Sri Lanka. The journal also has a website. Free full text access is available for all readers.The Sri Lanka Journal of Child Health is now indexed in SciVerse Scopus (Source Record ID 19900193609), Index Medicus for South-East Asia Region (IMSEAR), CABI (Centre for Agriculture and Bioscience International Global Health Database), DOAJ and is available in Google, as well as Google Scholar.The policies of the journal are modelled on the Committee on Publication Ethics (COPE) Guidelines on Principles of Transparency and Best Practice in Scholarly Publishing. Sri Lanka Journal of Child Health is recognised by the International Committee of Medical Journal Editors (ICMJE) as a publication following the ICMJE Recommendations.
Highlights
Propionic acidaemia (PA) is a severe intoxication type organic acidaemia and is characterized by the accumulation of propionic acid due to the deficiency of propionyl-CoA carboxylase (PCC)[1]
The biochemical defect is within the mitochondrial enzyme PCC, which converts propionic acid to methyl malonic acid using biotin as a cofactor[1,3]
Accumulated organic acid metabolites interfere with other metabolic pathways such as urea cycle, electron transport chain and glycine synthase complex resulting in lactic acidosis, hyperammonaemia, and ketotic hyperglycinaemia[4]
Summary
Propionic acidaemia (PA) is a severe intoxication type organic acidaemia and is characterized by the accumulation of propionic acid due to the deficiency of propionyl-CoA carboxylase (PCC)[1]. We report a classic case of PA, highlighting the importance of metabolic screening in cases of neonatal encephalopathy of unknown aetiology. Case report A 16-day-old baby boy, the third born of healthy consanguineous parents, presented to the routine well-baby clinic with a two-day history of vomiting, refusal to feed and lethargy. He was a term, appropriate for gestational age baby. There was a death of a male sibling at the age of 14 days, where the symptomatology resembled this peculiar presentation. Baby deteriorated gradually over the few days and evolved into encephalopathy. He became apnoeic and went into respiratory failure, requiring ventilatory support. Initial investigations revealed leucopenia with neutropenia and marked thrombocytopenia (Table 1)
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