ORPHA:407
Glycine encephalopathy
Synonyms: NKA · Non-ketotic hyperglycinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycine encephalopathy | NKA · Non-ketotic hyperglycinemia |
| fr | Encéphalopathie glycinique | Hyperglycinémie non cétosique · NKA |
| de | Glycin-Enzephalopathie | Hyperglycinämie, nicht-ketotische · NKA |
| es | Encefalopatía por glicina | Hiperglicinemia no cetósica · NKA |
| it | Encefalopatia da glicina | Iperglicinemia non chetotica · NKA |
| nl | Glycine-encefalopathie | NKH · Non-ketotische hyperglycinemie |
| pt | Encefalopatia por glicina | Hiperglicinemia não-cetótica · NKA |
| pl | Encefalopatia glicynowa | Hiperglicynemia nieketonowa · NKA |
| cs | Glycinová encefalopatie | NKA · Neketotická hyperglycinémie |
| uk | Гліцинова енцефалопатія | NKA · Некетозна гіперглікемія |
| zh | 甘氨酸脑病 | 非酮症高甘氨酸血症 |
| tr | Glisin ensefalopatisi | NKA · Ketotik olmayan hiperglisinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605899 | BTNT | validated | |
| OMIM | 620398 | BTNT | validated | |
| OMIM | 620423 | BTNT | validated | |
| ICD-10 | E72.5 | NTBT | inclusion | validated |
| ICD-11 | 5C50.70 | E | specific | validated |
| MONDO | 0011612 | E | validated | |
| MeSH | D020158 | E | validated | |
| UMLS | C0751748 | E | validated | |
| GARD | 7219 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:79194Disorder of serine or glycine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
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Genes
0 direct · 11 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| AMT | ORPHA:289857Neonatal glycine encephalopathy | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:473 | ENSG00000145020 | 238310 | 3p21.31 | aminomethyltransferase | 20301531[PMID] |
| AMT | ORPHA:289860Infantile glycine encephalopathy | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:473 | ENSG00000145020 | 238310 | 3p21.31 | aminomethyltransferase | 20301531[PMID] |
| AMT | ORPHA:289863Atypical glycine encephalopathy | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:473 | ENSG00000145020 | 238310 | 3p21.31 | aminomethyltransferase | 20301531[PMID] |
| GCSH | ORPHA:289857Neonatal glycine encephalopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:4208 | ENSG00000140905 | 238330 | 16q23.2 | glycine cleavage system protein H | 20301531[PMID] |
| GCSH | ORPHA:289860Infantile glycine encephalopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:4208 | ENSG00000140905 | 238330 | 16q23.2 | glycine cleavage system protein H | 20301531[PMID] |
| GCSH | ORPHA:289863Atypical glycine encephalopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:4208 | ENSG00000140905 | 238330 | 16q23.2 | glycine cleavage system protein H | 20301531[PMID] |
| GLDC | ORPHA:289857Neonatal glycine encephalopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:4313 | ENSG00000178445 | 238300 | 9p24.1 | glycine decarboxylase | 20301531[PMID] |
| GLDC | ORPHA:289860Infantile glycine encephalopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:4313 | ENSG00000178445 | 238300 | 9p24.1 | glycine decarboxylase | 20301531[PMID] |
| GLDC | ORPHA:289863Atypical glycine encephalopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:4313 | ENSG00000178445 | 238300 | 9p24.1 | glycine decarboxylase | 20301531[PMID] |
| SLC6A9 | ORPHA:289860Infantile glycine encephalopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:11056 | ENSG00000196517 | 601019 | 1p34.1 | solute carrier family 6 member 9 | 27481395[PMID] |
| SLC6A9 | ORPHA:289863Atypical glycine encephalopathy | Disease-causing germline mutation(s) in | Assessed | HGNC:11056 | ENSG00000196517 | 601019 | 1p34.1 | solute carrier family 6 member 9 | 27773429[PMID] |
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Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.17 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2002[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.8 / 100 000 | Finland | Value and class | Validated | 20301531[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.59 / 100 000 | Canada | Value and class | Validated | 10617747[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Saudi Arabia | Value and class | Validated | 20622343[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | Portugal | Value and class | Validated | 22532538[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | Portugal | Value and class | Validated | 22532538[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.8 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 8 / 100 000 | Specific population | Value and class | Validated | 33239050[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
13 annotations · validated 2017-02-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012705 | Abnormal metabolic brain imaging by MRS | |
| HP:0002353 | EEG abnormality | |
| HP:0010851 | EEG with burst suppression | |
| HP:0002154 | Hyperglycinemia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0100247 | Recurrent singultus | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0005957 | Breathing dysregulation | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001254 | Lethargy | |
| HP:0002033 | Poor suck | |
| HP:0005972 | Respiratory acidosis | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 23005907[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/407
- This record as JSON: /data/d/407.json