A neonate with molybdenum cofactor deficiency type B.

ABSTRACT: Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disease which leads to a combined deficiency of molybdenum cofactor dependent enzymes. There are four different genes in molybdenum cofactor biosynthesis, MOCS1, MOCS2, MOCS3, GEPH. The patients with MOCS2 homozygous mutation who onset in the neonatal period always have severe seizures, feeding difficulties, progressive neurological deterioration. The incidence of the disease is low, and certain types have never been reported in China. Here, we present a Chinese term infant with MOCS2 who presented seizure, intolerance to feed and hypotonia on the third day after birth. Treatment included intravenous nutrition, antibiotic, and anticonvulsant therapy. The seizure can't be controlled and her encephalo

SUBMITTER: Lin Y 

PROVIDER: S-EPMC8107882 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature