DOI: 10.36347/sjmcr.2021.v09i05.040

Pages: 610-613

Pyruvate carboxylase (PC) deficiency (OMIM, 266150) is a rare autosomal recessive disorder. It is characterized by developmental delay, failure to thrive, metabolic acidosis, and recurrent seizures. Hypoglycemia is an inconsistent finding. PC deficiency is divided in three clinical subtypes: an infantile form (Type A), a severe neonatal form (Type B), and a benign form (Type C). It is due to biallelic mutations in PC gene. In this study, we report the case of a Moroccan nonconsanguineous patient with hypotonia and metabolic acidosis. They had two deceased sibs with same phenotype and no accurate diagnosis. Clinical exome sequencing identified a compound heterozygous mutation c.2278C>T (p.Arg760Trp) and c.2602G>A (p.Gly868Arg) of PC gene leading to a post-mortem diagnosis of Pyruvate carboxylase deficiency. The identification of the genetic substrate in the deceased patient confirmed the clinical diagnosis of Pyruvate carboxylase deficiency and allowed appropriate genetic counseling to the family for future pregnancies. This case is the first observationof a post mortem case of familial PC deficiency, and it relates the importance of Next Generation Sequencing in post mortem diagnosis of patients with uncertain diagnosis.