Inborn Error of Metabolism (IEM) in Bhavnagar, Gujarat: a prospective study of 157 children from 0-2 years by Tandem Mass Spectroscopy
Authors: Bhojwani Kamlesh L , Gohil Jayendra R 
Published: March 2020

Objective:- To study clinico- investigative profile and outcome in patients with inborn errors of metabolism and to study incidence, prevalence, morbidity, and mortality in inborn errors of metabolism in Bhavnagar city.Methodology:- This is a prospective study in which patients admitted in NICU and PICU between April 2011 to March 2012, of age 0-2 years, with unexplained clinical features like neurological deterioration following trivial infections, persistent acidotic breathing, refractory convulsions, unexplained coma/ focal deficits, unexplained hepatic presentations were subjected to simple biochemical screening tests for inborn errors of metabolism like random blood sugar, electrolytes, lactate, arterial blood gases, ammonia, and urine ketones, after excluding septicemia, meningitis and underlying systemic disorders. Children with positive results on screening were subjected to tandem mass spectrometry (TMS) when indicated. Samples were collected on filter papers, air-dried, and then sent to laboratories for analysis. Management (dietary and symptomatic) according to standard protocols was initiated.Observation and Results:- Out of 157 recruited patients from NICU and PICU, 62 were positive for IEM. The most common clinical presentation was Lethargy/coma (54.83%), followed by poor sucking (45.16%), hypotonia (43.54%). Other common features were failure to thrive (37.09%), Respiratory distress (35.48%), Seizures (37.09%), Hepatosplenomegaly, Icterus (32.25%), and metabolic acidosis (29.03%). Consanguinity was seen in 33.87% of cases. Incidence of CAH was highest 1:1334 while the next common was Aminoacidopathies with an incidence of 1:2477, cystic fibrosis 1:4335 &amp; Lysosomal storage disorder 1:4335. The overall incidence of various IEM in Bhavnagar was very high at 1:560. It was more in males with Male: Female ratio of 1.17:1. Females were more affected in cystic fibrosis with a male: female ratio of 1:2.5. The mortality rate was very high in patients of IEM at 56.45%, and out of those who survived, patients with complete neurological recovery were very less. The mortality rate was highest in cystic fibrosis (85.71%), followed by Non-Ketotic Hyperglycinemia (70%), Congenital Adrenal Hyperplasia (52.38%). Based on religion, Incidence was more in Hindus as compared to Muslims. Consanguinity of marriage was seen in 89% of Muslim patients as compared to 24.5% of Hindu patients; overall consanguinity was associated with 33.8% of cases.Conclusion:-Inborn error of metabolism, considered to be a rare disease, was quite common in the present study. After eliminating consanguinity, the incidence of IEM was still high which indicates that some other factors like Environmental and/ or Industrial pollution may have a role in IEM. So it is recommended to carry out a study to find out the type of pollutant material in the atmosphere, especially with the diamond polishing industry being common and Ship-breaking industry nearby at Alang, in Bhavnagar.