D-GA
MCID: DGL002
MIFTS: 29

D-Glyceric Aciduria (D-GA)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for D-Glyceric Aciduria

MalaCards integrated aliases for D-Glyceric Aciduria:

Name: D-Glyceric Aciduria 58 60 76 13 6
D-Glyceric Acidemia 58 77 60 76
Deficiency of Glycerate Kinase 30 6 74
Glycerate Kinase Deficiency 58 76 41
Non Ketotic Hyperglycinemia Syndrome 54 74
D-Glycerate Kinase Deficiency 54 60
D-Glycericacidemia 54 74
Glycerate Kinase 13
D-Ga 76

Characteristics:

Orphanet epidemiological data:

60
d-glyceric aciduria
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset at birth or in infancy
some patients have no or mild manifestations and normal development


HPO:

33
d-glyceric aciduria:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for D-Glyceric Aciduria

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 941Disease definitionD-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.Visit the Orphanet disease page for more resources.

MalaCards based summary : D-Glyceric Aciduria, also known as d-glyceric acidemia, is related to metabolic acidosis and west syndrome. An important gene associated with D-Glyceric Aciduria is GLYCTK (Glycerate Kinase). Related phenotypes are sensorineural hearing impairment and intellectual disability

OMIM : 58 D-glyceric aciduria is a 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, whereas others have a mild phenotype with only mild speech delay or even normal development (summary by Sass et al., 2010). (220120)

UniProtKB/Swiss-Prot : 76 D-glyceric aciduria: A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe mental retardation and early death, to milder manifestations with only speech delay or even normal development.

Wikipedia : 77 D-Glyceric Acidemia (a.k.a. D-Glyceric Aciduria) is an inherited disease, in the category of inborn... more...

Related Diseases for D-Glyceric Aciduria

Diseases related to D-Glyceric Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 metabolic acidosis 10.3
2 west syndrome 10.3
3 encephalopathy 10.3

Symptoms & Phenotypes for D-Glyceric Aciduria

Human phenotypes related to D-Glyceric Aciduria:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 hyperreflexia 33 HP:0001347
5 failure to thrive 33 HP:0001508
6 global developmental delay 33 HP:0001263
7 microcephaly 33 HP:0000252
8 neonatal hypotonia 33 HP:0001319
9 aminoaciduria 33 HP:0003355
10 spastic tetraplegia 33 HP:0002510
11 myoclonus 33 HP:0001336
12 growth delay 33 HP:0001510
13 cerebral cortical atrophy 33 HP:0002120
14 metabolic acidosis 33 HP:0001942
15 encephalopathy 33 HP:0001298
16 opisthotonus 33 HP:0002179
17 hypsarrhythmia 33 HP:0002521
18 muscular hypotonia of the trunk 33 HP:0008936
19 nonketotic hyperglycinemia 33 HP:0008288
20 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
spastic tetraplegia
encephalopathy
opisthotonus
hypsarrhythmia
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia, neonatal

Neurologic Behavioral Psychiatric Manifestations:
autistic features (1 patient)

Growth Other:
failure to thrive
poor growth

Metabolic Features:
metabolic acidosis

Head And Neck Ears:
hearing loss, sensorineural (1 patient)

Laboratory Abnormalities:
increased d-glyceric acid in serum, urine, and csf

Clinical features from OMIM:

220120

Drugs & Therapeutics for D-Glyceric Aciduria

Search Clinical Trials , NIH Clinical Center for D-Glyceric Aciduria

Genetic Tests for D-Glyceric Aciduria

Genetic tests related to D-Glyceric Aciduria:

# Genetic test Affiliating Genes
1 Deficiency of Glycerate Kinase 30 GLYCTK

Anatomical Context for D-Glyceric Aciduria

Publications for D-Glyceric Aciduria

Articles related to D-Glyceric Aciduria:

(show all 14)
# Title Authors Year
1
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review. ( 30637540 )
2019
2
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. ( 28462797 )
2017
3
D-glyceric aciduria. ( 26247153 )
2015
4
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). ( 20949620 )
2010
5
D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour. ( 11930278 )
2002
6
D-(+)-glyceric aciduria in an Afghan hound. ( 9266364 )
1997
7
D-glyceric aciduria: new development. ( 1293396 )
1992
8
D(+)-glyceric aciduria: etiology and clinical consequences. ( 2165585 )
1990
9
D-glycerate kinase deficiency as a cause of D-glyceric aciduria. ( 2537226 )
1989
10
D-glyceric acidemia: an inborn error associated with fructose metabolism. ( 3588091 )
1987
11
Excretion of short-chain N-acylglycines in the urine of a patient with D-glyceric acidemia. ( 7408214 )
1980
12
Studies of the glycine metabolism in a patient with D-glyceric acidemia and hyperglycinemia. ( 7454444 )
1980
13
D-Glyceric acidemia in a patient with chronic metabolic acidosis. ( 971536 )
1976
14
D-glyceric acidemia: biohcemical studies of a new syndrome. ( 972784 )
1976

Variations for D-Glyceric Aciduria

UniProtKB/Swiss-Prot genetic disease variations for D-Glyceric Aciduria:

76
# Symbol AA change Variation ID SNP ID
1 GLYCTK p.Phe493Cys VAR_065909 rs121909448

ClinVar genetic disease variations for D-Glyceric Aciduria:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLYCTK GLYCTK, 1-BP DEL, 1448T deletion Pathogenic
2 GLYCTK NM_145262.3(GLYCTK): c.1478T> G (p.Phe493Cys) single nucleotide variant Likely pathogenic rs121909448 GRCh37 Chromosome 3, 52327048: 52327048
3 GLYCTK NM_145262.3(GLYCTK): c.1478T> G (p.Phe493Cys) single nucleotide variant Likely pathogenic rs121909448 GRCh38 Chromosome 3, 52293032: 52293032
4 GLYCTK GLYCTK, 1-BP DEL, 1558C deletion Pathogenic
5 GLYCTK NM_145262.3(GLYCTK): c.1448delT (p.Phe483Serfs) deletion not provided rs121909447 GRCh37 Chromosome 3, 52327018: 52327018
6 GLYCTK NM_145262.3(GLYCTK): c.1448delT (p.Phe483Serfs) deletion not provided rs121909447 GRCh38 Chromosome 3, 52293002: 52293002
7 GLYCTK NM_145262.3(GLYCTK): c.1558delC (p.Leu520Cysfs) deletion not provided rs121909449 GRCh37 Chromosome 3, 52327128: 52327128
8 GLYCTK NM_145262.3(GLYCTK): c.1558delC (p.Leu520Cysfs) deletion not provided rs121909449 GRCh38 Chromosome 3, 52293112: 52293112
9 GLYCTK NM_001144951.1(GLYCTK): c.60_62del (p.Trp21del) deletion Uncertain significance rs1553621315 GRCh37 Chromosome 3, 52324418: 52324420
10 GLYCTK NM_001144951.1(GLYCTK): c.60_62del (p.Trp21del) deletion Uncertain significance rs1553621315 GRCh38 Chromosome 3, 52290402: 52290404
11 GLYCTK NM_145262.3(GLYCTK): c.457C> T (p.Arg153Trp) single nucleotide variant Uncertain significance rs199906865 GRCh37 Chromosome 3, 52325055: 52325055
12 GLYCTK NM_145262.3(GLYCTK): c.457C> T (p.Arg153Trp) single nucleotide variant Uncertain significance rs199906865 GRCh38 Chromosome 3, 52291039: 52291039

Expression for D-Glyceric Aciduria

Search GEO for disease gene expression data for D-Glyceric Aciduria.

Pathways for D-Glyceric Aciduria

GO Terms for D-Glyceric Aciduria

Sources for D-Glyceric Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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