A case of molybdenum cofactor deficiency type A with Leigh encephalopathy-like course

Abstract

  We present a case of molybdenum cofactor deficiency type A (MoCD-A) which was asymptomatic in the neonatal period but developed in infancy, displaying motor developmental delay and a clinical course resembling Leigh’s encephalopathy. There was no evidence of hypouricemia or abnormalities in generally recognized serum amino acid levels (taurine, cystine, etc.). A previously reported homozygous variant of the MOCS1 gene (NM_001358530.2 : c. 949C＞T [p. Arg317Cys]) was identified by whole-genome sequencing, leading to the MoCD-A diagnosis. This disorder should be considered in patients with Leigh encephalopathy-like clinical manifestations.