Syeda Shireen Gul, Ayesha Isani Majeed, Abida Faiz Talpur.
Inborn Errors of Metabolism in Newborns: An Experience of Tertiary Care Hospital in Islamabad.
Ann Pak Inst Med Sci Jan ;13(2):213-6.

Objective: To determine the frequency of inborn error of metabolism in clinically suspected neonates and to determine the frequency of clinical presentations among them through Tandem Mass Spectrometry Study Design: Cross-sectional observational study Place & duration of study: Neonatology unit of PIMS, Islamabad from January 2016 to January 2017. Methodology: A total of fifty-five (n=55) neonates with history of undiagnosed early neonatal death in the siblings or unexplained persistent jaundice, convulsions, hypotonia, respiratory distress, persistent vomiting were enrolled in the study. Screening for inborn errors of metabolism was done by the tandem mass spectrometry using their dried blood samples. Results: 30 (54.5%) out of 55 total patients were positive for inborn errors of metabolism. 20 (66.66%) of the positive patients were male while 10 (33.33%) were females. Most common clinical presentation followed by persistent jaundice found to be the vomiting. From all the positive cases, 19 (63.33%) had a history of the death of siblings with similar complaints. 22 (73.33%) neonates were the product of consanguineous marriage, 08 (26.66%) neonates had a G6PD deficiency, 10 (33.33%) had disorders of amino acid metabolism, 4 (13.33%) had congenital adrenal hyperplasia, 3(10%) had Cystic fibrosis, 2 (6.66%) had organic acidemias and 3 (10%) had disorders of carbohydrate metabolism. Conclusion: A significant percentage of clinically suspected neonates found to have inborn errors of metabolism in this study. Errors in amino acid metabolism being highest in the list followed by G6PD Deficiency. The commonest presentations were vomiting followed by persistent jaundice.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com