Molybdenum-Cofactor Deficiency and Seizures
Pediatric Neurology Briefs, 1993 The clinical, biochemical, and neuropathological findings in two neonates with molybdenum-cofactor deficiency presenting with convulsions are reported from the Academic Medical Center, Amsterdam, The Netherlands.
J Gordon Millichap
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Early Neuroimaging in Molybdenum Cofactor Deficiency
Pediatric Neurology Briefs, 2014 Investigators at Wakayama Medical University, Japan, report the neuroimaging features soon after birth in 2 siblings with molybdenum cofactor deficiency (MoCoD) type A.
J Gordon Millichap, John J Millichap
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Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B [PDF]
Molecular Genetics and Metabolism Reports, 2019 Newborns with cystic degeneration with or without intractable seizures should be investigated for inborn errors of metabolism, including molybdenum cofactor deficiency (MoCoD).
Fady Hannah-Shmouni +7 more
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Molybdenum cofactor deficiency: A natural history [PDF]
Journal of Inherited Metabolic Disease, 2022 AbstractMolybdenum 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).
Ronen Spiegel, Bernd C Schwahn
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Choice of anesthesia in molybdenum cofactor deficiency: A case report
Journal of Research in Medical Sciences, 2014 Molybdenum cofactor (MC) deficiency is defined as a progressive neurodegenerative and neurometabolic disease, characterized by convulsions, severe mental and motor retardation resistant to the treatment.
Metin Alkan +3 more
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Molybdenum Cofactor Deficiency: Dietary Therapy
Pediatric Neurology Briefs, 1993 Moderate short-term clinical improvement was obtained with dietary methionine restriction and cysteine supplementation in a 5-month-old-girl with molybdenum cofactor deficiency (MoCD) treated at Yale University School of Medicine, New Haven, CT.
J Gordon Millichap
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Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature [PDF]
The Application of Clinical Genetics, 2020 MC Alonzo Martínez,1 E Cazorla,1 E Cánovas,1 K Anniuk,1 AE Cores,2 AM Serrano1 1Department of Obstetrics and Gynecology, Hospital Universitario de Torrevieja, Torrevieja, Alicante, Spain; 2Department of Radiology, Hospital Universitario de ...
Alonzo Martínez MC +5 more
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Gene Location for Molybdenum Cofactor Deficiency
Pediatric Neurology Briefs, 1998 Linkage of a molybdenum cofactor deficiency (MoCoD) gene to an 8-cM region on chromosome 6p21.3 has been localized by homozygosity mapping in 2 consanguineous affected kindreds of Israeli-Arab origin, including 5 patients, at the Department of Genetics ...
J Gordon Millichap
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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
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Two mild phenotype molybdenum cofactor deficiency patients with novel MOCS2 mutation and immunological treatment after COVID-19 infection [PDF]
BMC NeurologyBackground Molybdenum cofactor deficiency type B (MoCD-B) is a rare autosomal recessive metabolic disorder caused by mutations in MOCS2. Patients with mild phenotypes may experience infection-related neurological deterioration followed by partial ...
Zhen Shi +12 more
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