Background Several metabolic disorders can present with behavioural abnormalities or autism. There may or maynot be associated seizures or acute metabolic decompensation. Gas chromatography and mass spectrometry (GC-MS) is a modality for non-invasive testing for some of these disorders, especially organic acidurias. Children with dysmorphism, malformations and metabolic disorders are followed up in Genetic Clinic.
Aims We present here 7 cases of metabolic disorders diagnosed on GC-MS testing on urine and on follow up in the Genetic Clinic.
Methods The cases of suspected metabolic disorders were worked up through the outpatient clinic or during admission in Genetic ward. Patients seen in l1 year (Jan. to Dec. 2014) were included in the study.
Results There were 4 cases of methylmalonic acidemia (MMA), one case each of 3-methylglutaconic aciduria, didhydrolipoyldehydrogenase (DLD) deficiency and MMA with homocystinuria. The cases with MMA presented with developmental delay, hyperactivity and behavioural abnormalies. There was subtle dysmorphism on clinical evaluation. The child with MMA with homocystinuria presented with mental retardation and prominent forehead. He was admitted earlier with an episode of DVT and detailed evaluation led to the diagnosis. The child with 3-methyl-glutaconic aciduria presented with behavioural abnormalities.
Conclusions MMA was found to be a commoner metabolic disorder and treatable. A high index of suspicion is needed in diagnosis and an early diagnosis can improve the outcomes in patients with metabolic disorder.