Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.

ABSTRACT:

Background

Molybdenum cofactor deficiency (MoCD) is a rare autosomal-recessive disorder that results in the combined deficiency of molybdenum-dependent enzymes. Four different genes are involved in Molybdenum cofactor biosynthesis: MOCS1, MOCS2, MOCS3, and GEPH. The classical form manifests in the neonatal period with severe encephalopathy, including intractable seizures, MRI changes that resemble hypoxic-ischemic injury, microcephaly, and early death. To date, an atypical phenotype with late-onset has been reported in the literature in 13 patients.

Methods

We describe a late-onset and a relatively mild phenotype in a patient with MOCS2 homozygous mutation.

Results

Pyramidal and extrapyramidal signs are recognized in those patients, often exacerbated by intercurrent i

SUBMITTER: Scelsa B 

PROVIDER: S-EPMC6565584 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature