Results 11 to 20 of about 564,598 (106)

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review [PDF]

BMC Medical Genomics
Background Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder caused by pathogenic variants in the highly conserved biosynthetic pathway of molybdenum cofactor (MoCo), resulting in sulfite intoxication.
Morgan Kinsinger, Jelena Ivanisevic, Divakar S. Mithal   +2 more
doaj   +3 more sources

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
doaj   +2 more sources

Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACT Molybdenum cofactor deficiency (MoCD) is a rare differential diagnosis of neonatal hypoxic ischemic encephalopathy (HIE) with considerable variation in presentation and treatment outcomes. The temporospatial evolution of brain MRI appearances has not been well described.
Schwahn BC, Sinha R, Wright JAM, Pavaine J.   +3 more
europepmc   +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, Yu Aihara, Wakaba Endo, Hiroshi Hasegawa, Kimiyoshi Ichida, Mitsugu Uematsu, Shigeo Kure   +6 more
doaj   +2 more sources

Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports [PDF]

Genetics in Medicine Open
Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite.
Ferreira EA, Hofstede FC, Haijes-Siepel HA, Lichtenbelt KD, Pistorius L, de Sain-van der Velden MGM, Nikkels PGJ, Lequin MH, de Vries LS, van der Crabben SN, van Hasselt PM.   +10 more
exaly   +4 more sources

Two mild phenotype molybdenum cofactor deficiency patients with novel MOCS2 mutation and immunological treatment after COVID-19 infection [PDF]

BMC Neurology
Background 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, Jun Zhu, Binbin Cao, Yang Tian, Jie Yu, Chi Hou, Haixia Zhu, Xiuying Wang, Bingwei Peng, Yani Zhang, Kelu Zheng, Xiaojing Li, Yuanyuan Gao   +12 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, Juliane Roeper, Albert L. Misko, Joshua Kohl, Guenter Schwarz, Guenter Schwarz   +5 more
doaj   +2 more sources

A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF. [PDF]

J Inherit Metab Dis
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Christ S, Rossmann J, Richter S, Garbade S, Klinke G, Blau N, Hoffmann GF, Okun JG, Opladen T.   +8 more
europepmc   +2 more sources

Molybdenum’s Role as an Essential Element in Enzymes Catabolizing Redox Reactions: A Review [PDF]

Biomolecules
Molybdenum (Mo) is an essential element for human life, acting as a cofactor in various enzymes crucial for metabolic homeostasis. This review provides a comprehensive insight into the latest advances in research on molybdenum-containing enzymes and ...
Jakub Piotr Adamus, Anna Ruszczyńska, Aleksandra Wyczałkowska-Tomasik   +2 more
doaj   +2 more sources

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency. [PDF]

J Inherit Metab Dis
Abstract ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the lysine catabolism pathway. α‐Aminoadipic semialdehyde (α‐AASA) and Δ1‐piperideine‐6‐carboxylate (P6C), which accumulate because of the block in ...
Khalil Y, Footitt E, Vootukuri R, Wempe MF, Coughlin CR, Batzios S, Wilson MP, Kožich V, Clayton PT, Mills PB.   +9 more
europepmc   +2 more sources