D-glyceric aciduria

General Information (adopted from Orphanet):

Synonyms, Signs: GLYCERATE KINASE DEFICIENCY
D-glycerate kinase deficiency
d-glyceric acidemia
Number of Symptoms 30
OrphanetNr: 941
OMIM Id: 220120
ICD-10: D72.5
UMLs: C1291386
MeSH: C535767
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of glyoxylate metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0003355) Aminoaciduria 65 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
4
(HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
5
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
6
(HPO:0001298) Encephalopathy 72 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0002510) Spastic tetraplegia 54 / 7739
9
(HPO:0001347) Hyperreflexia 363 / 7739
10
(HPO:0001336) Myoclonus 115 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0001250) Seizures 1245 / 7739
13
(HPO:0002521) Hypsarrhythmia 43 / 7739
14
(HPO:0002179) Opisthotonus 35 / 7739
15
(HPO:0001510) Growth delay 295 / 7739
16
(HPO:0001508) Failure to thrive 454 / 7739
17
(HPO:0002154) Hyperglycinemia 12 / 7739
18
(HPO:0001942) Metabolic acidosis 81 / 7739
19
(HPO:0008288) Nonketotic hyperglycinemia 1 / 7739
20
(HPO:0001319) Neonatal hypotonia 101 / 7739
21
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
22
(HPO:0002120) Cerebral cortical atrophy 187 / 7739
23
(HPO:0012448) Delayed myelination 51 / 7739
24
(HPO:0003812) Phenotypic variability 129 / 7739
25
(OMIM) [DEL]Autistic features 43 / 7739
26
(OMIM) Increased D-glyceric acid in serum, urine, and CSF 1 / 7739
27
(OMIM) Refractory seizures 15 / 7739
28
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
(OMIM) Periventricular and subcortical white matter abnormalities 1 / 7739
30
(OMIM) Limb spasticity 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) D-glyceric aciduria is a very rare autosomal recessive metabolic disorder with a highly variable phenotype. Some patients have an encephalopathic presentation, with severe mental retardation, seizures, microcephaly, and sometimes early death, while others have a mild phenotype with ...
Clinical Description OMIM In the son of nonconsanguineous Serbian parents, Brandt et al. (1974, 1976) described nonketotic hyperglycinemia with the excretion of D-glyceric acid in the urine and the presence of this substance in the serum. Clinical features included neonatal hypotonia, ...
Molecular genetics OMIM In 3 unrelated patients with D-glyceric aciduria, Sass et al. (2010) identified 3 different homozygous loss of function mutations in the GLYCTK gene (610516.0001-610516.0003). One of the patients was the Serbian boy previously reported by Brandt et al. ...