Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

d‐lactate, one of the isomers of lactate, exists in a low concentration in healthy individuals and it can be oxidized to pyruvate catalyzed by d‐lactate dehydrogenase. Excessive amount of d‐lactate causes d‐lactate acidosis associated with neurological manifestations.

[1]  R. Rodenburg,et al.  Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population , 2020, Human genomics.

[2]  R. Zarivach,et al.  Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase. , 2019, The Journal of clinical investigation.

[3]  P. Bosco,et al.  Identification of human D lactate dehydrogenase deficiency , 2019, Nature Communications.

[4]  R. Nussbaum,et al.  Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework , 2018, Genetics in Medicine.

[5]  J. Menezes,et al.  The role of alternative splicing coupled to nonsense-mediated mRNA decay in human disease. , 2017, The international journal of biochemistry & cell biology.

[6]  Yang Zhang,et al.  STRUM: structure-based prediction of protein stability changes upon single-point mutation , 2016, Bioinform..

[7]  J. Schmitz,et al.  d-Lactate Dehydrogenase Links Methylglyoxal Degradation and Electron Transport through Cytochrome c1 , 2016, Plant Physiology.

[8]  L. Chhabra,et al.  D-Lactic Acidosis: An Underrecognized Complication of Short Bowel Syndrome , 2015, Gastroenterology research and practice.

[9]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[10]  Richard J. Rodenburg,et al.  Whole exome sequencing of suspected mitochondrial patients in clinical practice , 2015, Journal of Inherited Metabolic Disease.

[11]  Jeffrey A Kraut,et al.  Lactic acidosis. , 2014, The New England journal of medicine.

[12]  Christian Gilissen,et al.  A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases , 2013, Human mutation.

[13]  D. Higgins,et al.  Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega , 2011, Molecular systems biology.

[14]  T. Fuchigami,et al.  A case of D-lactic acid encephalopathy associated with use of probiotics , 2010, Brain and Development.

[15]  O. Greeff,et al.  Hyperuricaemia and gout: A review , 2010 .

[16]  E. Mohiuddin,et al.  Hyperuricemia and Gout: A Review Article , 2009 .

[17]  C. Béroud,et al.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.

[18]  L. Niskanen,et al.  Analytical investigation: assay of D-lactate in diabetic plasma and urine. , 2008, Clinical biochemistry.

[19]  G. Zello,et al.  D-lactate in human and ruminant metabolism. , 2005, The Journal of nutrition.

[20]  M. Iacovino,et al.  Two separate pathways for d-lactate oxidation by Saccharomyces cerevisiae mitochondria which differ in energy production and carrier involvement. , 2004, Biochimica et biophysica acta.

[21]  S. F. Konieczny,et al.  Identification of putative mammalian D-lactate dehydrogenase enzymes. , 2002, Biochemical and biophysical research communications.

[22]  G. Principato,et al.  D-Lactate transport and metabolism in rat liver mitochondria. , 2002, The Biochemical journal.

[23]  D. Eisenberg,et al.  The crystal structure of D-lactate dehydrogenase, a peripheral membrane respiratory enzyme. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[24]  M. Kalapos,et al.  Methylglyoxal in living organisms: chemistry, biochemistry, toxicology and biological implications. , 1999, Toxicology letters.

[25]  D. Amberg,et al.  Signalling between mitochondria and the nucleus regulates the expression of a new d‐lactate dehydrogenase activity in yeast , 1999, Yeast.

[26]  M. Waters,et al.  Spectrophotometric assay for D-(-)-lactate in plasma. , 1980, Analytical biochemistry.

[27]  S. Olson,et al.  Purification and properties of the flavoenzyme D-lactate dehydrogenase from Megasphaera elsdenii. , 1979, Biochemistry.

[28]  K. Phelps,et al.  D-lactic acidosis in a man with the short-bowel syndrome. , 1979, The New England journal of medicine.

[29]  H. Gonick,et al.  Organic acid excretion patterns in gout. , 1972, Annals of the rheumatic diseases.

[30]  J. Seegmiller,et al.  RENAL RETENTION OF URIC ACID INDUCED BY INFUSION OF BETA-HYDROXYBUTYRATE AND ACETOACETATE. , 1965, The New England journal of medicine.