Complementation Group B Molybdenum Cofactor Deficiency

Also Known As:

Molybdenum Cofactor Deficiency, Complementation Group B; Molybdenum Cofactor Deficiency Type B

Networked: 5 relevant articles (0 outcomes, 0 trials/studies)

1.	Seizures (Absence Seizure)

1.	Reiss, Jochen: 2 articles (04/2019 - 01/2016)
2.	Dandamudi, Raja: 1 article (01/2021)
3.	Granadillo, Jorge L: 1 article (01/2021)
4.	Grange, Dorothy Katherine: 1 article (01/2021)
5.	Kakajiwala, Aadil: 1 article (01/2021)
6.	Lee, Edward Jin: 1 article (01/2021)
7.	Blaz, Witold: 1 article (10/2020)
8.	Bochenska, Malgorzata: 1 article (10/2020)
9.	Gora, Artur: 1 article (10/2020)
10.	Jezela-Stanek, Aleksandra: 1 article (10/2020)

Drugs and Important Biological Agents (IBA) related to Complementation Group B Molybdenum Cofactor Deficiency:

1.	molybdopterin (molybdenum cofactor)IBA 01/01/2021 - "We report a 5-year-old female with clinically, biochemically and genetically confirmed molybdenum cofactor deficiency type B due to compound heterozygous pathogenic variants in the molybdenum cofactor synthesis 2 gene found on whole exome sequencing. " 01/01/2016 - "Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients."
2.	SulfitesIBA 10/14/2020 - "(1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary sulfite levels and craniofacial dysmorphism. "
3.	molybdopterin synthaseIBA 03/01/1999 - "Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B."

1.	Injections 04/01/2019 - "Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections."