Results 31 to 40 of about 8,189 (189)

Vitamin B12 Deficiency and Infantile Convulsions

Pediatric Neurology Briefs, 1999
The association of vitamin B12 deficiency and benign familial infantile convulsions (BFIC) is reported in one 4-month-old boy admitted to the University Hospital, Lund, Sweden, and in an additional 4 of 14 infants with BFIC who were found to have ...
J Gordon Millichap
doaj   +1 more source

Causes of and diagnostic approach to methylmalonic acidurias [PDF]

Journal of Inherited Metabolic Disease, 2008
SummarySeveral mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut0 and mut− defects result from deficiency of MMCoA mutase apoenzyme which requires adenosyl‐cobalamin (Ado‐Cbl) as coenzyme.
Fowler, B, Leonard, J V, Baumgartner, Matthias R   +2 more
openaire   +3 more sources

Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult

BMC Nephrology, 2020
Background Thrombotic microangiopathy (TMA) syndromes are characterized by the association of hemolytic anemia, thrombocytopenia and organ injury due to arteriolar and capillary thrombosis.
C. Philipponnet, J. Desenclos, M. Brailova, J. Aniort, J. L. Kemeny, C. Deville, V. Fremeaux-Bacchi, B. Souweine, A. E. Heng   +8 more
doaj   +1 more source

Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Frontiers in Neurology, 2020
Background: Cobalamin C (cblC) has a fundamental role in both central and peripheral nervous system function at any age. Neurologic manifestations may be the earliest and often the only manifestation of hereditary or acquired cblC defect.
Xujun Chu, Lingchao Meng, Wei Zhang, Jinjun Luo, Zhaoxia Wang, Yun Yuan   +5 more
doaj   +1 more source

Methylmalonic aciduria articles [PDF]

Journal of Inherited Metabolic Disease, 2008
Methylmalonic aciduria can occur to a widely varying degree, in isolation or combined with homocystinuria in a range of conditions. These include absorption and transport disorders or defects of intracellular cellular metabolism of vitamin B12, nutritional deficiency of this vitamin, or genetic defects of methylmalonyl-CoA mutase.
openaire   +1 more source

Liver neoplasms in methylmalonic aciduria: An emerging complication [PDF]

Journal of Inherited Metabolic Disease, 2019
AbstractMethylmalonic aciduria (MMA) is an inherited metabolic disease caused by methylmalonyl‐CoA mutase deficiency. Early‐onset disease usually presents with a neonatal acute metabolic acidosis, rapidly causing lethargy, coma, and death if untreated.
Forny, Patrick, Hochuli, Michel, Rahman, Yusof, Deheragoda, Maesha, Weber, Achim, Baruteau, Julien, Grunewald, Stephanie   +6 more
openaire   +5 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect

Frontiers in Cardiovascular Medicine
Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, represents the most common inborn error of cobalamin metabolism, caused by pathogenic variants in the MMACHC gene.
Dongling Xu, Chi Zhang, Lin Hao, Shaojie Bi, Aiying Xue, Liangshuai Yuan, Wenke Wang   +6 more
doaj   +1 more source

Understanding the off-loading mechanism of adenosylcobalamin by Cupriviadus metallidurans adenosyltransferase from C. metallidurans Isobutyryl-CoA Mutase Fused [PDF]

Structural Dynamics
Enzymes are Nature's highly efficient catalysts, driving the metabolism of diverse substrates essential for sustaining life across all biological kingdoms.
Jayoh Amurao Hernandez
doaj   +1 more source

Deep brain stimulation outcomes and management of childhood‐onset dystonia and associated hyperkinetic movements disorders

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine longitudinal changes in self‐selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports.
Sinead Barkey, Laura Ainaga, Eva Maria Navarrete Muñoz, Verity McClelland, Keyoumars Ashkan, Richard Selway, Harutomo Hasegawa, Daniel E Lumsden, Jean‐Pierre Lin, Hortensia Gimeno   +9 more
wiley   +1 more source