Molybdenum cofactor deficiency: Neuroimaging findings [PDF]
Radiology Case Reports, 2018 Molybdenum cofactor deficiency is an extremely rare and fatal metabolic disorder that should be considered in the differential diagnosis of hypoxic-ischemic encephalopathy. Magnetic resonance imaging findings are useful in diagnosis.
Mehmet Sedat Durmaz, PhD +1 more
doaj +7 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 +5 more sources
Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency [PDF]
Frontiers in Genetics, 2021 Background: The molybdenum cofactor (Moco) deficiency in humans results in the inactivity of molybdenum-dependent enzymes and is caused by pathogenic variants in MOCS1 (Molybdenum cofactor synthesis 1), MOCS2 (Molybdenum cofactor synthesis 2), and GPHN ...
Qi Tian +12 more
doaj +4 more sources
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature [PDF]
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
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 +2 more sources
Sulfite Alters the Mitochondrial Network in Molybdenum Cofactor Deficiency [PDF]
Frontiers in Genetics, 2021 Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disorder belonging to the large family of inborn errors in metabolism. Patients typically present with encephalopathy and seizures early after birth and develop severe neurodegeneration ...
Anna-Theresa Mellis +5 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
The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation [PDF]
Molecular Genetics and Metabolism Reports, 2021 Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism that results from mutations in genes involved in molybdenum cofactor (Moco) biosynthesis.
Yu Abe +6 more
doaj +2 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
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