BACKGROUND

Only isolated case reports of type 1 Glutaric aciduria (GA1) are available and there is paucity of case series. Hence, this study was planned with an objective to explore the clinical and laboratory profile of children with GA1.

METHODS

This is a retrospective chart review in a tertiary pediatric centre in southern India between August 2011 and May 2018. All children with GA1 confirmed by Tandem mass spectroscopy (TMS) and/or urinary gas chromatography and mass spectrometry (GCMS) were included. The children data and the follow up details were collected. Simple descriptive statistics were used to analyze the data.

RESULTS

Out of 20 children, 14(70%) were male. Median age of onset of symptoms was 3 months and median age of presentation was 16 months. The clinical features include developmental delay 18(90%), dystonia/involuntary movements 12(60%), neuroregression 10(50%), seizures 5(25%), ataxia 2(10%), infantile spasms 1(5%), acute encephalopathy 8(40%). Macrocephaly, consanguinity, metabolic acidosis and elevated serum ammonia were observed in 14 (70%).   12(60%) had increased lactate. 15(75%) had elevated glutarylcarnitine in TMS. Urinary GC/MS was done in 7(35%) and revealed 3 hydoxyglutaric acid elevation in 4(57%). MRI Brain revealed basal ganglia signal changes 18 (90%), Batwing sign 16(80%), diffuse white matter signal 4 (20%) and cystic leucodystrophy 1(5%). Genetic confirmation done in 3(15%). On follow up 1(5%) was developmentally normal, 2(10%) expired, 17(85%) had neurologic sequelae, 1(5%) had refractory epileptic spasms and 4(20%) were ambulatory.

CONCLUSION

GA1 should be considered in any child presenting with large/normal head, developmental delay/regression, dystonia /involuntary movements.