Document Type



Pathology and Laboratory Medicine


Objective: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two years.
Study Design: Retrospective Observational study.
Place and Duration of Study: The Aga Khan University Hospital (AKUH), Karachi, from January 2013 to December 2014.
Methodology: Patients with OA and AA were included in the study and patients with IMDs other than OA and AA were excluded. Amino acids and organic acids were analyzed on high performance liquid chromatography and gas chromatography-mass spectrometry respectively. Clinical data and chromatograms of patients screened for IMDs were reviewed by chemical pathologist and metabolic physician.
Results: Eighty-eight cases (4.7%) were diagnosed including 41 OA (46.5%), 28 AA (31.8%) and 19 others (21.5%) from 1,866 specimens analyzed. Median age of the patients was 1.1 years, with high consanguinity rate (64.8%). Among OA, methyl CoA mutase deficiency was diagnosed in 9 (10.2%) and was suspected in 2 (2.3%) cases. Five (5.7%) cases of MHBD (2-methyl-3-hydroxybutyryl-CoA), 4 (4.5%) each of PPA (propionic aciduria) and HMG-CoA lyase deficiency, 3 (3.4%) cases each of IVA (isovaleric aciduria), multiple carboxylase deficiency, fructose-1, 6-biphosphatase deficiency, fumarase deficiency, GA-1 (glutaric aciduria type 1) and 2 (2.3%) cases of EMA (ethyl-malonic aciduria). AA included 8 (9.1%) cases of MSUD (maple syrup urine disease), 6 (6.8%) cases of CBS (cystathionine beta-synthetase) and UCDs (urea cycle disorders) each, 5 (5.7%) cases of hyperphenylalaninemia and 3 (3.4%) cases of hyperprolinemia were reported. Other inherited metabolic disorders included: 9 (10.2%) cases of intracellular cobalamin defects, 2 (2.3%) cases each of alkaptonuria, Canavan's disease, SUCL (succinate CoA ligase) deficiency, and 1 (1.1%) case each of DPD (dihydropyrimidine) deficiency, GA-2, NKH (non-ketotic hyperglycinemia), AADC (aromatic amino acid decarboxylase) deficiency.
Conclusion: This study presents frequency of OA and AA in the high-risk Pakistani pediatric population analyzed locally.


Journal of the College of Physicians and Surgeons Pakistan