抽象的な

Spectrum of common and rare small molecule inborn errors of metabolism diagnosed in a tertiary care centre.

Anish Tamrakar, Anjali Kale, Suvarna Magar*, Ajay Kale, Vinod Ingale, Nilesh Shewale, Madhuri Engade, Sachin Khambayate, Madhavi Shelke

Introduction: In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds.

Materials and Methods: Total 602 patients were screened in genetic clinic, out of which 112 patients were suspected with IEM. Here we have included data of 40 patients which were diagnosed as small molecule IEM based on TMS/GCMS gold standard and genetic testing in few of them.

Result: Out of 602 patients referred to genetic OPD, 40 patients were diagnosed with small molecule inborn errors of metabolism (6.6%). 112 patients underwent tandem mass spectrometry and urine gas chromatography mass spectrometry.

Discussion: We present the cases of IEM referred to genetic clinic from PICU, NICU, wards and OPD. Most common reason for referral was metabolic encephalopathy, followed by global developmental delay and seizure disorder with less common being hypoglycemia, hepatic failure etc.

Conclusion: By creating this data resource we aimed to leverage an overview of different common and rare IEMs found in our region, and document the genetic variants that are relevant to the diagnosis of IEMs.