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Infantile glycine encephalopathy

MedGen UID:: 1781124
•Concept ID:: C5548209
•: Disease or Syndrome

Synonyms:	glycine encephalopathy of infancy; infantile glycine encephalopathy; Infantile NKH; infantile NKH; Infantile non-ketotic hyperglycinemia; infantile non-ketotic hyperglycinemia; infantile onset glycine encephalopathy
SNOMED CT:	Infantile glycine encephalopathy (1156826003); Infantile non-ketotic hyperglycinemia (1156826003)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0017354
Orphanet:	ORPHA289860

Definition

Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVInfantile glycine encephalopathy

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Abnormality of the nervous system
        Glycine encephalopathy
        Infantile glycine encephalopathy

Professional guidelines

PubMed

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Zou W, Li M, Wang X, Lu H, Hao Y, Chen D, Zhu S, Ji D, Zhang Z, Zhou P, Cao Y
J Assist Reprod Genet 2024 May;41(5):1245-1259. Epub 2024 Mar 12 doi: 10.1007/s10815-024-03057-1. PMID: 38470552 Free PMC Article

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC 3rd
Epilepsia 2015 May;56(5):707-16. Epub 2015 Mar 25 doi: 10.1111/epi.12954. PMID: 25818041

The controversy regarding diagnostic criteria for early myoclonic encephalopathy.

Wang PJ, Lee WT, Hwu WL, Young C, Yau KI, Shen YZ
Brain Dev 1998 Oct;20(7):530-5. doi: 10.1016/s0387-7604(98)00042-4. PMID: 9840674

See all (3)

Recent clinical studies

Etiology

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

Leyne E, Anselem O, Jordan P, Vivanti AJ, Benachi A, Salomon L, Jacquier M, Jouannic JM, Dhombres F, Cambier T, Rosenblatt J, Pannier E, Goffinet F, Tsatsaris V, Athiel Y
Acta Obstet Gynecol Scand 2024 Jan;103(1):51-58. Epub 2023 Nov 9 doi: 10.1111/aogs.14716. PMID: 37942915 Free PMC Article

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

Investigation of neuronal auto-antibodies in children diagnosed with epileptic encephalopathy of unknown cause.

Tekturk P, Baykan B, Erdag E, Peach S, Sezgin M, Yapici Z, Küçükali Cİ, Vincent A, Tuzun E
Brain Dev 2018 Nov;40(10):909-917. Epub 2018 Jun 21 doi: 10.1016/j.braindev.2018.06.002. PMID: 29935963

Transient neonatal hyperglycinemia.

Schiffmann R, Kaye EM, Willis JK 3rd, Africk D, Ampola M
Ann Neurol 1989 Feb;25(2):201-3. doi: 10.1002/ana.410250218. PMID: 2919871

See all (14)

Diagnosis

Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center.

Yüksel MF, Doğulu N, Yıldırım M, Köse E, Bektaş Ö, Eminoğlu FT, Teber S
Brain Dev 2024 Jun;46(6):213-218. Epub 2024 Mar 16 doi: 10.1016/j.braindev.2024.03.003. PMID: 38493042

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

Transient neonatal hyperglycinemia.

Schiffmann R, Kaye EM, Willis JK 3rd, Africk D, Ampola M
Ann Neurol 1989 Feb;25(2):201-3. doi: 10.1002/ana.410250218. PMID: 2919871

Nonketotic hyperglycinemia: electroencephalographic and evoked potential abnormalities.

Markand ON, Garg BP, Brandt IK
Neurology 1982 Feb;32(2):151-6. doi: 10.1212/wnl.32.2.151. PMID: 6798489

See all (27)

Therapy

GRIN2B gain of function mutations are sensitive to radiprodil, a negative allosteric modulator of GluN2B-containing NMDA receptors.

Mullier B, Wolff C, Sands ZA, Ghisdal P, Muglia P, Kaminski RM, André VM
Neuropharmacology 2017 Sep 1;123:322-331. Epub 2017 May 19 doi: 10.1016/j.neuropharm.2017.05.017. PMID: 28533163

Cannabidiol: pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders.

Devinsky O, Cilio MR, Cross H, Fernandez-Ruiz J, French J, Hill C, Katz R, Di Marzo V, Jutras-Aswad D, Notcutt WG, Martinez-Orgado J, Robson PJ, Rohrback BG, Thiele E, Whalley B, Friedman D
Epilepsia 2014 Jun;55(6):791-802. Epub 2014 May 22 doi: 10.1111/epi.12631. PMID: 24854329 Free PMC Article

Early epileptic encephalopathy with suppression burst electroencephalographic pattern--an analysis of eight Taiwanese patients.

Chen PT, Young C, Lee WT, Wang PJ, Peng SS, Shen YZ
Brain Dev 2001 Nov;23(7):715-20. doi: 10.1016/s0387-7604(01)00285-6. PMID: 11701284

The controversy regarding diagnostic criteria for early myoclonic encephalopathy.

Wang PJ, Lee WT, Hwu WL, Young C, Yau KI, Shen YZ
Brain Dev 1998 Oct;20(7):530-5. doi: 10.1016/s0387-7604(98)00042-4. PMID: 9840674

Early treatment of severe infantile glycine encephalopathy (nonketotic hyperglycinemia) with strychnine and sodium benzoate.

Melançon SB, Dallaire L, Vincelette P, Potier M, Geoffroy G
Prog Clin Biol Res 1979;34:217-29. PMID: 531053

See all (10)

Prognosis

Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center.

Yüksel MF, Doğulu N, Yıldırım M, Köse E, Bektaş Ö, Eminoğlu FT, Teber S
Brain Dev 2024 Jun;46(6):213-218. Epub 2024 Mar 16 doi: 10.1016/j.braindev.2024.03.003. PMID: 38493042

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

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

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

Transient neonatal hyperglycinemia.

Schiffmann R, Kaye EM, Willis JK 3rd, Africk D, Ampola M
Ann Neurol 1989 Feb;25(2):201-3. doi: 10.1002/ana.410250218. PMID: 2919871

See all (17)

Clinical prediction guides

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

Novel LIAS variants in a patient with epilepsy and profound developmental disabilities.

Wongkittichote P, Chhay C, Zerafati-Jahromi G, Weisenberg JL, Mian A, Jensen LT, Grange DK
Mol Genet Metab 2023 Mar;138(3):107373. Epub 2023 Jan 7 doi: 10.1016/j.ymgme.2023.107373. PMID: 36680912

Integrative Approach to Predict Severity 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

Nonketotic hyperglycinemia: electroencephalographic and evoked potential abnormalities.

Markand ON, Garg BP, Brandt IK
Neurology 1982 Feb;32(2):151-6. doi: 10.1212/wnl.32.2.151. PMID: 6798489

See all (12)

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Infantile glycine encephalopathy

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Table of contents

Clinical resources

Practice guidelines

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Reviews

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