U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Inborn disorder of methionine cycle and sulfur amino acid metabolism

MedGen UID:
1842381
•Concept ID:
C5680126
•
Disease or Syndrome
Synonyms: Cytosolic methyl group transfer or sulfur amino acid metabolism disorder; cytosolic methyl group transfer or sulfur amino acid metabolism disorder; cytosolic methyl group transfer or sulphur amino acid metabolism disorder; disorder of methionine cycle and sulfur amino acid metabolism; Disorder of methionine cycle and sulfur amino acid metabolism; disorder of methionine cycle and sulphur amino acid metabolism; inborn disorder of methionine cycle and sulfur amino acid metabolism; inborn error of sulfur amino acid metabolic process; inborn error of sulphur amino acid metabolic process; inborn sulfur amino acid metabolic process disorder; inborn sulphur amino acid metabolic process disorder; rare inborn error of sulfur amino acid metabolic process; rare inborn error of sulphur amino acid metabolic process
 
Monarch Initiative: MONDO:0019222
Orphanet: ORPHA79173

Definition

An inherited metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. [from MONDO]

Professional guidelines

PubMed

Newborn screening and inborn errors of metabolism.
Pasquali M, Longo N
Am J Med Genet C Semin Med Genet 2011 Feb 15;157C(1):1-2. Epub 2011 Feb 10 doi: 10.1002/ajmg.c.30290. PMID: 21337697

Recent clinical studies

Etiology

When to measure plasma homocysteine and how to place it in context: The homocystinurias.
Huemer M
J Mother Child 2020 Oct 2;24(2):39-46. doi: 10.34763/jmotherandchild.20202402si.2016.000007. PMID: 33179601Free PMC Article
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J
Biochimie 2015 Dec;119:146-65. Epub 2015 Nov 2 doi: 10.1016/j.biochi.2015.10.022. PMID: 26542286
Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects.
Fowler B, Whitehouse C, Wenzel F, Wraith JE
Pediatr Res 1997 Jan;41(1):145-51. doi: 10.1203/00006450-199701000-00023. PMID: 8979304

Diagnosis

When to measure plasma homocysteine and how to place it in context: The homocystinurias.
Huemer M
J Mother Child 2020 Oct 2;24(2):39-46. doi: 10.34763/jmotherandchild.20202402si.2016.000007. PMID: 33179601Free PMC Article
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J
Biochimie 2015 Dec;119:146-65. Epub 2015 Nov 2 doi: 10.1016/j.biochi.2015.10.022. PMID: 26542286
α-Ketoglutaramate: an overlooked metabolite of glutamine and a biomarker for hepatic encephalopathy and inborn errors of the urea cycle.
Cooper AJ, Kuhara T
Metab Brain Dis 2014 Dec;29(4):991-1006. Epub 2013 Nov 14 doi: 10.1007/s11011-013-9444-9. PMID: 24234505Free PMC Article
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Döbeln U, Gustafsson CM, Lundeberg J, Wedell A
Am J Hum Genet 2011 Oct 7;89(4):507-15. Epub 2011 Sep 28 doi: 10.1016/j.ajhg.2011.09.004. PMID: 21963049Free PMC Article
Newborn screening and inborn errors of metabolism.
Pasquali M, Longo N
Am J Med Genet C Semin Med Genet 2011 Feb 15;157C(1):1-2. Epub 2011 Feb 10 doi: 10.1002/ajmg.c.30290. PMID: 21337697

Clinical prediction guides

Inborn errors of sulfur-containing amino acid metabolism.
Finkelstein JD
J Nutr 2006 Jun;136(6 Suppl):1750S-1754S. doi: 10.1093/jn/136.6.1750S. PMID: 16702350

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...