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    • INTERMEDIARY METABOLISM: ENERGY
      • 11    Other disorders of mitochondrial function
        • 11.1    Disorders of mitochondrial shuttles and carriers
          • Mitochondrial citrate carrier deficiency
          • Mitochondrial phosphate carrier deficiency
          • Adenine nucleotide translocator deficiency
          • Mitochondrial dicarboxylate transporter deficiency
          • Mitochondrial oxoglutarate/malate carrier deficiency
          • Cytosolic glycerol-3-phosphate dehydrogenase deficiency
          • Mitochondrial oxodicarboxylate carrier deficiency
          • Mitochondrial glutamate transporter deficiency
          • Mitochondrial ATP-Mg/phosphate transporter deficiency
          • S-adenosylmethionine carrier deficiency
          • Mitochondrial pyrimidine nucleotide carrier deficiency
          • Mitochondrial glycine transporter deficiency
          • Mitochondrial calcium uniporter deficiency
          • Mitochondrial calcium uniporter 2 deficiency
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  • Pathways
  • Multimers
  • More information
    • About Online IMD
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  • Home
  • Diseases
    • INTERMEDIARY METABOLISM: ENERGY
      • 11    Other disorders of mitochondrial function
        • 11.1    Disorders of mitochondrial shuttles and carriers
          • Mitochondrial citrate carrier deficiency
          • Mitochondrial phosphate carrier deficiency
          • Adenine nucleotide translocator deficiency
          • Mitochondrial dicarboxylate transporter deficiency
          • Mitochondrial oxoglutarate/malate carrier deficiency
          • Cytosolic glycerol-3-phosphate dehydrogenase deficiency
          • Mitochondrial oxodicarboxylate carrier deficiency
          • Mitochondrial glutamate transporter deficiency
          • Mitochondrial ATP-Mg/phosphate transporter deficiency
          • S-adenosylmethionine carrier deficiency
          • Mitochondrial pyrimidine nucleotide carrier deficiency
          • Mitochondrial glycine transporter deficiency
          • Mitochondrial calcium uniporter deficiency
          • Mitochondrial calcium uniporter 2 deficiency
  • Genes
  • Gene products
  • Pathways
  • Multimers
  • More information
    • About Online IMD

Mitochondrial citrate carrier deficiency

  • Synonym(s)
    • Combined D-2- and L-2-hydroxyglutaric aciduria
  • Type
    Disease
  • External link(s)
    • Orphanet
    • IEMbase
  • Gene
    • SLC25A1 / solute carrier family 25 member 1
      • 22q11.21
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Mitochondrial citrate carrier protein
  • Disease group(s)
    • 11.1    Disorders of mitochondrial shuttles and carriers