A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation

• Published in: Journal of inherited metabolic disease Vol. 41; no. 2; pp. 187 - 196
• Main Authors: Mayr, Simon Julius, Sass, Jörn Oliver, Vry, Julia, Kirschner, Janbernd, Mader, Irina, Hövener, Jan-Bernd, Reiss, Jochen, Santamaria-Araujo, José Angel, Schwarz, Günter, Grünert, Sarah Catharina
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.03.2018; Blackwell Publishing Ltd
• Subjects: Age of Onset; Biochemistry; Child; Child, Preschool; Children; Coenzymes - metabolism; Diet, Protein-Restricted; Frameshift Mutation; Genetic analysis; Genetic Predisposition to Disease; HEK293 Cells; Human Genetics; Humans; Inborn errors of metabolism; Internal Medicine; Magnetic Resonance Imaging; Male; Maturation; Medicine; Medicine & Public Health; Metabolic Diseases; Metal Metabolism, Inborn Errors - diagnosis; Metal Metabolism, Inborn Errors - diet therapy; Metal Metabolism, Inborn Errors - genetics; Metal Metabolism, Inborn Errors - metabolism; Metalloproteins - metabolism; Molybdenum; Movement disorders; Mutation; Neurodegeneration; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Original Article; Pediatrics; Peptide Fragments - genetics; Peptide Fragments - metabolism; Phenotype; Phenotypes; Protein deficiency; Proteins; Pteridines - metabolism; Seizures; Sulfite; Sulfite oxidase; Transcription; Translation; Translation initiation; Translation termination; Urine; Molybdenum cofactor; Moco deficiency; Sulfite oxidase; sulfocysteine; Kozak-sequence; Urothione; MOCS1; cPMP; S-sulfocysteine

Molybdenum cofactor deficiency is an autosomal recessive inborn error of metabolism, which results from mutations in genes involved in Moco biosynthesis. Moco serves as a cofactor of several enzymes, including sulfite oxidase. MoCD is clinically characterized by intractable seizures and severe, rapi...