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Aminomethyltransferase deficiency

MedGen UID:: 82820
•Concept ID:: C0268562
•: Disease or Syndrome

Synonyms:	Hyperglycinemia, Nonketotic, Type II; Nonketotic Hyperglycinemia, Type II; Type II Nonketotic Hyperglycinemia
SNOMED CT:	Aminomethyltransferase deficiency (67845009); T-protein deficiency (67845009); Tetrahydrofolate aminomethyltransferase deficiency (67845009); Nonketotic hyperglycinemia, type II (67845009); T protein deficiency (67845009); Non-ketotic hyperglycinemia T protein deficiency (67845009); Non-ketotic hyperglycinemia type II (67845009)

Professional guidelines

PubMed

Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.

Farris J, Calhoun B, Alam MS, Lee S, Haldar K
PLoS Comput Biol 2020 May;16(5):e1007871. Epub 2020 May 18 doi: 10.1371/journal.pcbi.1007871. PMID: 32421718 Free PMC Article

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.

Bjoraker KJ, Swanson MA, Coughlin CR 2nd, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G, Hodge MA, Gaughan S, Burns C, Van Hove JL
J Pediatr 2016 Mar;170:234-9. Epub 2016 Jan 1 doi: 10.1016/j.jpeds.2015.12.027. PMID: 26749113

Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia.

Boneh A, Allan S, Mendelson D, Spriggs M, Gillam LH, Korman SH
Mol Genet Metab 2008 Jun;94(2):143-7. Epub 2008 Apr 18 doi: 10.1016/j.ymgme.2008.02.010. PMID: 18395481

See all (14)

Recent clinical studies

Etiology

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

Kuseyri Hübschmann O, Juliá-Palacios NA, Olivella M, Guder P, Zafeiriou DI, Horvath G, Kulhánek J, Pearson TS, Kuster A, Cortès-Saladelafont E, Ibáñez S, García-Jiménez MC, Honzík T, Santer R, Jeltsch K, Garbade SF, Hoffmann GF, Opladen T, García-Cazorla Á
Ann Neurol 2022 Aug;92(2):292-303. Epub 2022 Jun 16 doi: 10.1002/ana.26423. PMID: 35616651

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.

Bayrak H, Yıldız Y, Olgaç A, Kasapkara ÇS, Küçükcongar A, Zenciroğlu A, Yüksel D, Ceylaner S, Kılıç M
Metab Brain Dis 2021 Aug;36(6):1213-1222. Epub 2021 Apr 1 doi: 10.1007/s11011-021-00718-3. PMID: 33791923

Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.

Gavrilovici C, Rho JM
J Inherit Metab Dis 2021 Jan;44(1):42-53. Epub 2020 Aug 11 doi: 10.1002/jimd.12283. PMID: 32654164

Neonatal nonketotic hyperglycinemia.

Bhamkar RP, Colaco P
Indian J Pediatr 2007 Dec;74(12):1124-6. doi: 10.1007/s12098-007-0212-x. PMID: 18174652

Inborn errors of metabolism in infancy: a guide to diagnosis.

Burton BK
Pediatrics 1998 Dec;102(6):E69. doi: 10.1542/peds.102.6.e69. PMID: 9832597

See all (67)

Diagnosis

Neuroimaging Spectrum of Inherited Neurotransmitter Disorders.

Lim YT, Mankad K, Kinali M, Tan AP
Neuropediatrics 2020 Feb;51(1):6-21. Epub 2019 Oct 21 doi: 10.1055/s-0039-1698422. PMID: 31634934

Neonatal hypotonia.

J Paediatr Child Health 2017 Apr;53(4):425. doi: 10.1111/jpc.2_13302. PMID: 28370868

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL
Genet Med 2017 Jan;19(1):104-111. Epub 2016 Jun 30 doi: 10.1038/gim.2016.74. PMID: 27362913

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL
Ann Neurol 2015 Oct;78(4):606-18. Epub 2015 Aug 10 doi: 10.1002/ana.24485. PMID: 26179960 Free PMC Article

Diffusion-weighted MR imaging in leukodystrophies.

Patay Z
Eur Radiol 2005 Nov;15(11):2284-303. Epub 2005 Jul 15 doi: 10.1007/s00330-005-2846-2. PMID: 16021451

See all (199)

Therapy

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.

Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK
Orphanet J Rare Dis 2022 Dec 5;17(1):423. doi: 10.1186/s13023-022-02581-6. PMID: 36471344 Free PMC Article

Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.

Gavrilovici C, Rho JM
J Inherit Metab Dis 2021 Jan;44(1):42-53. Epub 2020 Aug 11 doi: 10.1002/jimd.12283. PMID: 32654164

Ketogenic diets in patients with inherited metabolic disorders.

Scholl-Bürgi S, Höller A, Pichler K, Michel M, Haberlandt E, Karall D
J Inherit Metab Dis 2015 Jul;38(4):765-73. Epub 2015 Jun 25 doi: 10.1007/s10545-015-9872-2. PMID: 26109259

Nonketotic hyperglycinemia: clinical, biochemical, and therapeutic considerations.

Langan TJ, Pueschel SM
Curr Probl Pediatr 1983 Jan;13(3):1-30. doi: 10.1016/0045-9380(83)90016-6. PMID: 6301756

Nonketotic hyperglycinemia.

Baumgartner R, Ando T, Nyhan WL
J Pediatr 1969 Dec;75(6):1022-30. doi: 10.1016/s0022-3476(69)80341-0. PMID: 5352828

See all (69)

Prognosis

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.

Swanson MA, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW, Van Hove JLK
J Inherit Metab Dis 2022 Jul;45(4):734-747. Epub 2022 Apr 6 doi: 10.1002/jimd.12500. PMID: 35357708 Free PMC Article

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia.

Dulac O
Handb Clin Neurol 2013;113:1785-97. doi: 10.1016/B978-0-444-59565-2.00048-4. PMID: 23622401

Atypical variants of nonketotic hyperglycinemia.

Dinopoulos A, Matsubara Y, Kure S
Mol Genet Metab 2005 Sep-Oct;86(1-2):61-9. doi: 10.1016/j.ymgme.2005.07.016. PMID: 16157495

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Clinical prediction guides

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises.

Kisa PT, Uzun OU, Gunduz M, Bulbul FS, Kose E, Arslan N
Arch Pediatr 2021 Nov;28(8):702-706. Epub 2021 Oct 5 doi: 10.1016/j.arcped.2021.09.008. PMID: 34620546

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Atypical variants of nonketotic hyperglycinemia.

Dinopoulos A, Matsubara Y, Kure S
Mol Genet Metab 2005 Sep-Oct;86(1-2):61-9. doi: 10.1016/j.ymgme.2005.07.016. PMID: 16157495

Inborn errors of metabolism in infancy: a guide to diagnosis.

Burton BK
Pediatrics 1998 Dec;102(6):E69. doi: 10.1542/peds.102.6.e69. PMID: 9832597

See all (66)