A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant [PDF]
Clinical Case ReportsKey Clinical Message Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring.
Jamal Sayed +4 more
doaj +3 more sources
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis [PDF]
JIMD ReportsMolybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years.
Molly M. Crenshaw +11 more
doaj +3 more sources
Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B [PDF]
American Journal of Ophthalmology Case Reports, 2022 Purpose: To report a rare case of Molybdenum Cofactor Deficiency with novel ocular manifestations. Observations: This is a case study of a 6-year-old boy who initially presented with conjunctival hyperemia and ocular pain of the left eye. Medical history
Wenjia Yan +3 more
doaj +4 more sources
Molybdenum cofactor deficiency: A natural history [PDF]
Journal of Inherited Metabolic Disease, 2022 Abstract Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [MoCD‐A], MoCD‐B, and MoCD‐C) that cause sulfite intoxication disorders. This natural history study analyzed retrospective data for 58 living or deceased patients (MoCD‐A, n = 41; MoCD‐B, n = 17). MoCD genotype, survival,
Ronen Spiegel, Bernd C Schwahn
exaly +3 more sources
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate [PDF]
Journal of Inherited Metabolic DiseaseABSTRACT Molybdenum cofactor deficiency (MoCD) Type A is an ultrarare disorder causing neurodegeneration and early death. Cyclic pyranopterin monophosphate (cPMP), a molybdenum cofactor precursor, is a therapeutic option for patients with MoCD Type A.
Ronen Spiegel +2 more
exaly +3 more sources
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
Molecular Genetics & Genomic Medicine, 2019 Background Molybdenum cofactor deficiency (MoCD) is a rare autosomal‐recessive disorder that results in the combined deficiency of molybdenum‐dependent enzymes.
Barbara Scelsa +5 more
doaj +3 more sources
Molybdenum Cofactor Deficiency in Humans [PDF]
Molecules, 2022 Molybdenum cofactor (Moco) deficiency (MoCD) is characterized by neonatal-onset myoclonic epileptic encephalopathy and dystonia with cerebral MRI changes similar to hypoxic–ischemic lesions.
Lena Johannes +2 more
doaj +4 more sources
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report [PDF]
Frontiers in Neurology, 2023 BackgroundMolybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway.ObjectivesWe report a milder phenotype in a patient with ...
Montaha Almudhry +14 more
doaj +2 more sources
A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report [PDF]
Children, 2023 Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive in-born error of metabolism caused by the mutation in MOCS1, MOCS2, MOCS3 or GEPH genes, with an incidence ranging between 1 in 100,000 and 200,000 live births.
Giulia Lucignani +11 more
doaj +2 more sources
Prenatal diagnosis of molybdenum cofactor deficiency [PDF]
Case Reports in Perinatal MedicineTo describe the prenatal imaging findings and genetic diagnosis of molybdenum cofactor deficiency (MoCD) in two consecutive pregnancies, highlighting its variable prenatal presentation and diagnostic challenges.
Araújo Maria Teresa +7 more
doaj +2 more sources