Condition: NADH cytochrome B5 reductase deficiency


rs121965006 in CYB5R3 gene and NADH cytochrome B5 reductase deficiency PMID 9695975 1998 Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I.

PMID 7718898 1995 Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.

PMID 1898726 1991 Structural role of serine 127 in the NADH-binding site of human NADH-cytochrome b5 reductase.

PMID 1707593 1991 Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency.

PMID 9886302 1998 Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.

PMID 15953014 2005 Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase.

PMID 10807796 2000 A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.

PMID 12393396 2002 Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.

PMID 15622768 1997 [Arginine-glutamine replacement at residue 57 of NADH-cytochrome b5 reductase in Chinese hereditary methemoglobinemia].

PMID 8119939 1994 An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type). A functional implication for the role of the COOH-terminal region of the enzyme.

PMID 1400360 1992 Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type).

rs121964987 in DLD gene and NADH cytochrome B5 reductase deficiency PMID 12925875 2003 Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

PMID 8968745 1996 Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.

PMID 16770810 2006 Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

PMID 15712224 2005 A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

PMID 8506365 1993 Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.

PMID 10448086 1999 Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.

PMID 9540846 1997 Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing.

PMID 16442803 2006 Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex.

PMID 17404228 2007 Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.

PMID 20160912 2009 Interaction of E1 and E3 components with the core proteins of the human pyruvate dehydrogenase complex.

PMID 11687750 2002 Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.

PMID 9934985 1999 Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.

PMID 23290025 2013 Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

PMID 23995961 2014 Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.

PMID 23478190 2013 The diagnosis of DLD deficiency was possible only after genome-wide linkage analysis, confirmed by a homozygous mutation (p.G229C) in the DLD gene, previously reported in patients with the same geographic origin.

PMID 21558426 2011 Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase.

PMID 24516753 2014 Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

PMID 14765544 2003 Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.

PMID 16601893 2006 Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family.

PMID 21930696 2011 Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.

PMID 9540846 1997 Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 27144126 2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

PMID 18362926 2008 TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency.

PMID 25251739 2014 Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.

PMID 1347528 1992 Characterization of two site-specifically mutated human dihydrolipoamide dehydrogenases (His-452----Gln and Glu-457----Gln).

PMID 7797549 1995 Spectroscopic studies of the characterization of recombinant human dihydrolipoamide dehydrogenase and its site-directed mutants.

PMID 15712224 2005 The only other case of E3 deficiency without clinical or biochemical evidences of PDC and BCKDC deficiencies has been ascribed to a c.1436A>T (p.D479V; or D444V in the processed gene product) mutation, very close to the mutation reported herein.