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Arakawa syndrome 2

MedGen UID:
75697
•Concept ID:
C0268611
•
Disease or Syndrome
Synonyms: Arakawa's syndrome 2; Methionine synthase deficiency; N5-methylhomocysteine transferase deficiency; Tetrahydrofolate-methyltransferase deficiency syndrome
SNOMED CT: Tetrahydrofolate methyltransferase deficiency (89579000); THF methyltransferase deficiency (89579000)
 
Monarch Initiative: MONDO:0021915

Definition

A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArakawa syndrome 2

Professional guidelines

PubMed

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR 2nd
J Inherit Metab Dis 2022 Mar;45(2):157-168. Epub 2021 Oct 21 doi: 10.1002/jimd.12448. PMID: 34625984
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR
J Inherit Metab Dis 2015 Sep;38(5):957-67. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9803-7. PMID: 25526710

Recent clinical studies

Etiology

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR 2nd
J Inherit Metab Dis 2022 Mar;45(2):157-168. Epub 2021 Oct 21 doi: 10.1002/jimd.12448. PMID: 34625984
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR
J Inherit Metab Dis 2015 Sep;38(5):957-67. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9803-7. PMID: 25526710

Diagnosis

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR 2nd
J Inherit Metab Dis 2022 Mar;45(2):157-168. Epub 2021 Oct 21 doi: 10.1002/jimd.12448. PMID: 34625984
Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis.
Komulainen-Ebrahim J, Saastamoinen E, Rahikkala E, Helander H, Hinttala R, Risteli L, Rantala H, Uusimaa J
Neuropediatrics 2017 Dec;48(6):467-472. Epub 2017 Jun 30 doi: 10.1055/s-0037-1603976. PMID: 28666289
Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis.
Bicakci Z
Medicine (Baltimore) 2015 Mar;94(9):e584. doi: 10.1097/MD.0000000000000584. PMID: 25738478Free PMC Article
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR
J Inherit Metab Dis 2015 Sep;38(5):957-67. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9803-7. PMID: 25526710

Prognosis

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR
J Inherit Metab Dis 2015 Sep;38(5):957-67. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9803-7. PMID: 25526710

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