A case report of pyruvate carboxylase deficiency with long-term survival

Abstract

Pyruvate carboxylase deficiency is a rare metabolic disorder with autosomal recessive inheritance. This biotin-dependent enzyme is involved in the tricarboxylic acid cycle, gluconeogenesis, lipogenesis, and the synthesis of the brain neurotransmitters nicotinamide adenine dinucleotide phosphate. The severity of symptoms and survival rates vary depending on the type of enzyme deficiency. In this article, we introduce a 3-year-old boy with the onset of symptoms (hypoglycemia) and lactic acidosis from the first 24 hours of life. In a genetic study, genetic inheritance in favor of pyruvate carboxylase deficiency was reported.

Keywords: Lactic acidosis, pyruvate carboxylase deficiency disease, hypoglycemia