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Abstract

Isovaleric acidemia is an autosomal recessive inborn error of


metabolism caused by deficiency of mitochondrial enzyme isovaleryl-CoA
dehydrogenase (IVD) resulting in the accumulation of derivatives of isovaleryl-
CoA that can cause significant morbidity and mortality. Acute metabolic
encephalopathy can be subtle in the neonatal period and can’t be always
recognized because many presentation can occur.
We present a case of acute metabolic encephalopathy in a 7-day-old
boy who came to the Emergency Department through referral with the
diagnosis of suspected of neonatal sepsis. He was poorly feeding since 2
days before admission and had a history of seizure. The baby was very
lethargic and inactive. There was a peculiar body odor like “sweaty feet”. His
clinical and laboratory examination showed the following abnormalities:
severe dehydration, positive pathologic reflexes, acute kidney injury stage
failure, metabolic acidosis, hypernatremia, hyperkalemia, hypercalcemia and
hyperglycemia, high anion gap, hyperammonemia and normal limit of lactate.
It was suggestive for Isovaleric Acidemia so before the tandem mass
spectrometry result revealed the diagnosis, we managed this patients by fluid
rescucitation, electrolyte correction, protein restriction and carnitin
supplementation. We did not give glycine since its not available in Indonesia.
After a month of hospitalization, his clinical condition had improved, and was
followed as an outpatient clinic patient.

Keywords: Isovaleric Acidemia, Organic acidemia, Isovaleryl-CoA


dehydrogenase

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