5C50.B
Disorders of methionine cycle or sulphur amino acid metabolism
Distúrbios do ciclo da metionina ou do metabolismo de aminoácidos de enxofre
CategoryIndex Terms
Disorders of methionine cycle or sulphur amino acid metabolismdisorder of sulphur-bearing amino acid including those due to folate and b12 disturbancedisorder of sulphur-bearing amino acid metabolismdisorder of transsulfurationdisorder of transsulphurationdisturbances of sulphur-bearing amino-acid metabolismsulphuraminoacidaemiaDisorders of sulphur-bearing amino-acid metabolismBrain demyelination due to methionine adenosyltransferase deficiencyMethionine adenosyltransferase I/III deficiencyIsolated persistent hypermethioninaemiaMAT I/III - [Methionine adenosyltransferase I/III] deficiencyGlycine N-methyltransferase deficiencyGNMT - [Glycine N-methyltransferase] deficiencyPsychomotor retardation and myopathy due to S-adenosylhomocysteine hydrolase deficiencyHypermethioninaemia due to S-adenosylhomocysteine hydrolase deficiencyCystathioninuriaGamma-cystathionase deficiencyCystathione gamma-lyase deficiencyCTH - [cystathioninuria]cystathionine metabolic disorderClassical homocystinuriaHomocystinuria due to cystathionine beta-synthase deficiencyCystathionine beta-synthase deficiencyCBS - [Cystathionine beta-synthase] deficiencycystathionine synthase deficiencyhomocystine metabolic disorderHomocystinuria without methylmalonic aciduria5-methyltetrahydrofolate-homocysteine s-methyltransferase deficiencyMethionine synthase deficiencyMethylcobalamin deficiencyN5-methylhomocysteine transferase deficiencyMethylcobalamin deficiency type cbl EHomocystinuria due to defect in methylation type cbl EHomocystinuria - megaloblastic anaemia due to defect in cobalamin metabolism, cbI E complementation typeMethylcobalamin deficiency type cbl GHomocystinuria due to methionine synthase deficiency type Cbl GHomocystinuria - megaloblastic anaemia due to defect in cobalamin metabolism, cbI G complementation typeMethylcobalamin deficiency type cbl Dv1Encephalopathy due to sulfite oxidase deficiencyIsolated sulfite oxidase deficiencyISOD - [Isolated sulfite oxidase deficiency]Sulfite oxidase deficiency due to molybdenum cofactor deficiencyCombined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidaseMolybdenum cofactor deficiency, complementation group AMolybdenum cofactor deficiency due to defects in MOCS1 geneMolybdenum cofactor deficiency, complementation group BMolybdenum cofactor deficiency due to defects in MOCS2 geneMolybdenum cofactor deficiency, complementation group CHypermethioninaemia due to adenosine kinase deficiencyOther genetic defects of methionine cycle or sulfur amino acid metabolismSecondary non-genetic disorders of methionine cycle or sulfur amino acid metabolismBeery-baby syndromeCystathioninemiaDeficiency of cystathionaseDeficiency of cysteine desulfhydrasedeficiency of cysteine desulphydrasedeficiency of cystine desulfhydrasedeficiency of cystine desulphydraseDeficiency of homoserine deaminaseDeficiency of methionine adenosyltransferaseFamilial methionine malabsorptionHepatic methionine adenosyltransferase deficiencyHomocystinaemiaHypermethioninaemiamethionine metabolic disorderMethionine malabsorption syndromeoast-house diseaseoast-house urine diseaseoasthouse diseaseoasthouse urine diseaseSmith-Strang diseaseSulfite oxidase deficiencysulfite oxidase deficiency syndromesulphite oxidase deficiencysulfocysteinuriasulphocysteinuria