1yr 3month old baby born out of a non-consanguineous marriage has been admitted to PICU with chief
complaints of Vomiting and Poor appetite for 4 days, loose stool for 2 days and breathlessness for 1 day.
Child had received symptomatic treatment on opd basis from outside. As her symptoms increased and
started to have irritability, dehydration and breathing difficulty so she got admitted to an outside private
hospital and received dehydration correction. Her blood gas was suggestive of severe metabolic acidosis
(PH:6.9, Hco3 , Pco2: 9, lactate 0.6) .so referred to medicover hospital for further management.
Serum lactate was normal, and high uric acid level (11.4 mg/dl), serum ammonia 49.8 mcg/dl & urine
ketone was 3 + in view of these reports and clinical findings child suspected to have an inborn error of
metabolism.
The child was intubated and put on a mechanical ventilator, started on a metabolic cocktail (
multivitamins, SYP.carnisure, Inj. vit B12, cap co Q ), Iv bicarbonate corrections and bicarbonate-based iv
fluids. As acidosis was severe and persistent in spite of bicarbonate correction so started on peritoneal
dialysis with bicarbonate-based PD fluid.
In view of suspected IEM, metabolic blood & urine screen was sent ( NBS Tetra, Urine GCMS) and a
report was suggestive of Beta-ketothiolase deficiency/2-Methyl-3-hydroxybutyryl CoA dehydrogenase
deficiency. Clinical exome sequencing for HSD17B10/ACAT1 gene mutation analysis which was positive
that also confirmed the diagnosis.
Acidosis resolved gradually on day 3 of PICU stay meanwhile she also received PRBC transfusion in view
of low hemoglobin. As she was maintaining her vitals and acidosis resolved so sedation stopped and
ventilator support tapered gradually.
On day 4 of PICU stay child started on special diet (low protein diet, maltodextrin and fruit juices)
through NG tube Child oral intake has been improved, hemodynamically stable, urine ketones are nil so
she had discharged on required multivitamin supplementations and a special diet.
Contributors
Dr. Narjohan Meshram
Head of Pediatric Intensive Care Department.
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