holocarboxylase synthetase deficiency
- holocarboxylase synthetase deficiency
- holo·car·boxy·lase syn·the·tase de·fi·cien·cy (hōl″o-kahr-bokґsə-lās sinґthə-tās) a biotin-responsive, autosomal recessive aminoacidopathy caused by mutations in the HLCS gene (locus: 21q22.1), which encodes holocarboxylase synthetase, leading to deficiency of activity of the biotin-containing carboxylases. It appears during the neonatal period or in infancy; features include metabolic ketoacidosis, organic aciduria, hyperammonemia, breathing difficulties, alopecia, skin rash, developmental delay, hypotonia, seizures, ataxia, and coma. Urine contains organic acids characteristic of each individual carboxylase deficiency. Called also early-onset, neonatal, or infantile multiple carboxylase deficiency.
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2011.
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Holocarboxylase synthetase deficiency — Infobox Disease Name = PAGENAME Caption = Biotin DiseasesDB = 32709 ICD10 = ICD9 = ICDO = OMIM = 253270 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 1020 MeshID = D028922 | Holocarboxylase synthetase deficiency is an inherited metabolic… … Wikipedia
Holocarboxylase synthetase — protein Name=holocarboxylase synthetase (biotin (proprionyl Coenzyme A carboxylase (ATP hydrolysing)) ligase) caption= width= HGNCid=4976 Symbol=HLCS AltSymbols= EntrezGene=3141 OMIM=609018 RefSeq=NM 000411 UniProt=P50747 PDB= ECnumber=6.3.4.10… … Wikipedia
holocarboxylase synthetase — One of several enzymes that biotinylate other proteins ( e.g., carboxylases); a deficiency of h. will result in organic acidemia. * * * holo·car·boxy·lase syn·the·tase (hōl″o kahr bokґsə lās sinґthə tās) an enzyme… … Medical dictionary
Multiple carboxylase deficiency — Classification and external resources MeSH D009100 Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase synth … Wikipedia
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multiple carboxylase deficiency — either of two autosomal recessive aminoacidopathies caused by mutations that lead to deficient activity of biotin containing carboxylases. The early onset (or neonatal or infantile) form results from holocarboxylase synthetase deficiency (q.v.);… … Medical dictionary
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