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Disease on EC 2.5.1.151 - alkylcobalamin dealkylase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
alkylcobalamin dealkylase deficiency
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Anemia, Megaloblastic
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
Avitaminosis
THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation.
Craniofacial Abnormalities
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
Genetic Diseases, Inborn
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
Glycogen Storage Disease Type VI
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.
Homocystinuria
A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene.
Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.
Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder.
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
Epimutation of MMACHC compound to a genetic mutation in cblC cases.
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
MMACHC gene mutation in familial hypogonadism with neurological symptoms.
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type.
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Outcomes of patients with cobalamin C deficiency: A single center experience.
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy.
Hyperhomocysteinemia
A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male.
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1.
High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.
Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease.
Hypertension
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.
Hypogonadism
MMACHC gene mutation in familial hypogonadism with neurological symptoms.
Infections
Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.
Kallmann Syndrome
Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman.
Macular Degeneration
Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.
Melanoma
Genetic, epigenetic and genomic mechanisms of methionine dependency of cancer and tumor-initiating cells: What could we learn from folate and methionine cycles.
Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC.
Metabolic Diseases
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Neoplasms
Genetic, epigenetic and genomic mechanisms of methionine dependency of cancer and tumor-initiating cells: What could we learn from folate and methionine cycles.
Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC.
Phenylketonurias
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Pulmonary Arterial Hypertension
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.