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Objectives: To study profile ofIEM cases - age of onset, common presenting features, effectiveness oftreatment and short term outcome in children. Methods: study period- Jan 2009-May 2012. Symptomatic children(unexplained encephalopathy,  movement disorder, hepatomegaly,hypoglycemia, acidosis, etc)  screenedwith Blood gases, serum ammonia, lactate, TMS, urine GC-MS & HPLC.  Long term outcome of diagnosed cases  obtained during follow up visits and out-patientrecords. Microsoft XL based tools  used tostudy distributions and trends. Results: Among 1,422 high riskchildren screened 130 were positive for IEM (9.14%).  28.6% had family history of abortions,unexplained sibling deaths & siblings with similar complaints. Seventy ninepercent presented  in  first year of life. Organic acidemias (OA)were commonest 69 (53%),  Fatty AcidOxidation Disorders 32(25%) & Amino Acid Disorders 24(18%). Methylmalonic academia(18), Glutaric aciduria-1(15)& Propionic academia (11)  werecommon OAs.  MSUD(8) &Tyrosinemia-1(6)common amino acid metabolism disorders. MCAD(12) & CPT-1(6)  common FAODs. Disorders of Amino AcidMetabolism  earliest onset and highestmortality.  Infections were commontriggers. Encephalopathy, Developmental delay, metabolic acidosis,hypoglycemia, hepatomegaly, hypotonia and diarrhea  major presenting symptoms. Fifty   lost for follow-up. 80 patients who receivedspecific interventions, 27.5% improved and an equal percentage had mortality(Neonatal mortality being the highest at 71.5%). 45%  who received intervention survived withmorbidity  speech delay, motor delay,gross developmental delay and generalized dystonia.Conclusions: Organic aciduirasare the largest group, post symptomatic treatment was associated with poor longterm outcome. Hence the need for New-born screening ingeneral population for presymptomatic diagnoses.

small molecule disease, short term outcome, inborn errors of metabolism