D-glyceric aciduria
Synonyms: D-glycerate kinase deficiency · D-glyceric acidemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | D-glyceric aciduria | D-glycerate kinase deficiency · D-glyceric acidemia |
| fr | Acidurie D-glycérique | Acidémie D-glycérique · Déficit en D-glycérate kinase |
| de | D-Glycerat-Kinase-Mangel | D-Glyceratazidurie |
| es | Aciduria D-glicérica | Acidemia D-glicérica · Deficiencia de D-glicerato quinasa |
| it | Aciduria D-glicerica | Aciedmia D-glicerica · Deficit di D-glicerato chinasi |
| nl | D-glycerinezuuracidurie | D-glycerinezuuracidemie · Deficiëntie van D-glyceraatkinase |
| pt | Acidúria D-glicérica | Acidemia D-glicérica · Deficiência de D-glicerato cinase |
| pl | Acyduria D-glicerynowa | Kwasica D-glicerynowa · Niedobór kinazy D-glicerynowej |
| cs | D-glycerová acidurie | Deficit D-glycerát kinázy · D-glycerová acidémie |
| uk | D-гліцеринова ацидурія | Дефіцит D-гліцераткінази · D-гліцеринова ацидемія |
| zh | D-甘油酸尿症 | D-甘油酸激酶缺乏症 |
| tr | D-gliserik asidüri | D-gliserik asidemi · D-gliserat kinaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220120 | E | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.7Y | NTBT | index | validated |
| MONDO | 0009070 | E | validated | |
| MeSH | C535767 | E | validated | |
| UMLS | C0342765 | E | validated | |
| GARD | 234 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:308998Disorder of glyoxylate metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLYCTK | Disease-causing germline mutation(s) in | Assessed | HGNC:24247 | ENSG00000168237 | 610516 | 3p21.2 | glycerate kinase | 20949620[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2021-08-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0001942 | Metabolic acidosis | |
| HP:0002448 | Progressive encephalopathy | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0002154 | Hyperglycinemia | |
| HP:0003108 | Hyperglycinuria | |
| HP:0500230 | Increased CSF glycine concentration | |
| HP:0030781 | Increased circulating free fatty acid level | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0012444 | Brain atrophy | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0002072 | Chorea | |
| HP:0000365 | Hearing impairment | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0007185 | Loss of consciousness | |
| HP:0001336 | Myoclonus | |
| HP:0008288 | Nonketotic hyperglycinemia | |
| HP:0012736 | Profound global developmental delay | |
| HP:0000253 | Progressive microcephaly | |
| HP:0011344 | Severe global developmental delay | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26247153[PMID]_30637540[PMID]_28462797[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/941
- This record as JSON: /data/d/941.json