D-GA
MCID: DGL002
MIFTS: 32

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 57 59 74 13 6
D-Glyceric Acidemia 57 75 59 74
Deficiency of Glycerate Kinase 29 6 72
Glycerate Kinase Deficiency 57 74 40
Non Ketotic Hyperglycinemia Syndrome 53 72
D-Glycerate Kinase Deficiency 53 59
D-Glycericacidemia 53 72
D-Ga 74

Characteristics:

Orphanet epidemiological data:

59
d-glyceric aciduria
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
d-glyceric aciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 220120
MeSH 44 D008661
MESH via Orphanet 45 C535767
ICD10 via Orphanet 34 E74.8
UMLS via Orphanet 73 C1291386
Orphanet 59 ORPHA941
UMLS 72 C1291386 C3887877 C4078861

Summaries for D-Glyceric Aciduria

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 941DefinitionD-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 microcephaly and glycine encephalopathy. An important gene associated with D-Glyceric Aciduria is GLYCTK (Glycerate Kinase). Affiliated tissues include liver, and related phenotypes are sensorineural hearing impairment and intellectual disability

OMIM : 57 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 : 74 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 : 75 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:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 microcephaly 10.5
2 glycine encephalopathy 10.4
3 metabolic acidosis 10.4
4 encephalopathy 10.4
5 hypotonia 10.4
6 yemenite deaf-blind hypopigmentation syndrome 10.3
7 branchiootic syndrome 1 10.3
8 west syndrome 10.3
9 cortical blindness 10.3
10 early myoclonic encephalopathy 10.3
11 inherited metabolic disorder 10.3
12 cerebral atrophy 10.3
13 breast cyst 9.8
14 tetanus 9.8
15 argyria 9.8

Graphical network of the top 20 diseases related to D-Glyceric Aciduria:



Diseases related to D-Glyceric Aciduria

Symptoms & Phenotypes for D-Glyceric Aciduria

Human phenotypes related to D-Glyceric Aciduria:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 hyperreflexia 32 HP:0001347
5 failure to thrive 32 HP:0001508
6 global developmental delay 32 HP:0001263
7 microcephaly 32 HP:0000252
8 neonatal hypotonia 32 HP:0001319
9 aminoaciduria 32 HP:0003355
10 spastic tetraplegia 32 HP:0002510
11 myoclonus 32 HP:0001336
12 growth delay 32 HP:0001510
13 cerebral cortical atrophy 32 HP:0002120
14 hypsarrhythmia 32 HP:0002521
15 metabolic acidosis 32 HP:0001942
16 encephalopathy 32 HP:0001298
17 opisthotonus 32 HP:0002179
18 delayed myelination 32 HP:0012448
19 muscular hypotonia of the trunk 32 HP:0008936
20 nonketotic hyperglycinemia 32 HP:0008288

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
spastic tetraplegia
hypsarrhythmia
encephalopathy
opisthotonus
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 29 GLYCTK

Anatomical Context for D-Glyceric Aciduria

MalaCards organs/tissues related to D-Glyceric Aciduria:

41
Liver

Publications for D-Glyceric Aciduria

Articles related to D-Glyceric Aciduria:

(show all 29)
# Title Authors PMID Year
1
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). 38 8 71
20949620 2010
2
Letter: Hyperglycericacidaemia with hyperglycinaemia: a new inborn error of metabolism. 8 71
4434100 1974
3
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. 38 8
28462797 2017
4
D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour. 38 8
11930278 2002
5
D(+)-glyceric aciduria: etiology and clinical consequences. 38 8
2165585 1990
6
D-glycerate kinase deficiency as a cause of D-glyceric aciduria. 38 8
2537226 1989
7
D-glyceric acidemia: an inborn error associated with fructose metabolism. 38 8
3588091 1987
8
D-glyceric acidemia: biohcemical studies of a new syndrome. 38 8
972784 1976
9
D-glyceric acidaemia: clinical report and biochemical studies in a patient. 8
1909405 1991
10
Glycine/serine ratios in amniotic fluid: an unreliable indicator for the prenatal diagnosis of nonketotic hyperglycinemia. 8
6406113 1983
11
Nonketotic hyperglycinemia: treatment with diazepam--a competitor for glycine receptors. 8
6300746 1983
12
D-glyceric-acidaemia and non-ketotic hyperglycinaemia. Clinical and laboratory findings in a new syndrome. 8
1251720 1976
13
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review. 38
30637540 2019
14
Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder. 38
28190537 2017
15
D-glyceric aciduria. 38
26247153 2015
16
Isolation and characterization of the human D-glyceric acidemia related glycerate kinase gene GLYCTK1 and its alternatively splicing variant GLYCTK2. 38
16753811 2006
17
Differential chemical diagnosis of primary hyperoxaluria type II. Highly sensitive analysis of optical isomers of glyceric acid by GC/MS as diastereoisomeric derivatives. 38
16055048 2005
18
Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of glyceric acid in urine of patients with D-glyceric and L-glyceric acidurias. 38
11920944 2002
19
[D-glycerate kinase D-glyceric aciduria]. 38
9589998 1998
20
D-(+)-glyceric aciduria in an Afghan hound. 38
9266364 1997
21
Chiral compounds as indicators of inherited metabolic disease. Simultaneous stereodifferentiation of lactic-, 2-hydroxyglutaric- and glyceric acid by enantioselective cGC. 38
9676282 1996
22
Inborn errors of fructose metabolism. 38
8213611 1993
23
D-glyceric aciduria: new development. 38
1293396 1992
24
Coenzyme specificity of mammalian liver D-glycerate dehydrogenase. 38
2689175 1989
25
Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria. 38
2551543 1989
26
Organic acidurias: approach, results and clinical relevance. 38
6918293 1982
27
Excretion of short-chain N-acylglycines in the urine of a patient with D-glyceric acidemia. 38
7408214 1980
28
Studies of the glycine metabolism in a patient with D-glyceric acidemia and hyperglycinemia. 38
7454444 1980
29
D-Glyceric acidemia in a patient with chronic metabolic acidosis. 38
971536 1976

Variations for D-Glyceric Aciduria

ClinVar genetic disease variations for D-Glyceric Aciduria:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GLYCTK GLYCTK, 1-BP DEL, 1448T deletion Pathogenic
2 GLYCTK GLYCTK, 1-BP DEL, 1558C deletion Pathogenic
3 GLYCTK NM_145262.4(GLYCTK): c.1478T> G (p.Phe493Cys) single nucleotide variant Likely pathogenic rs121909448 3:52327048-52327048 3:52293032-52293032
4 GLYCTK NM_145262.4(GLYCTK): c.60_62del (p.Trp21del) deletion Uncertain significance rs1553621315 3:52324418-52324420 3:52290402-52290404
5 GLYCTK NM_145262.4(GLYCTK): c.457C> T (p.Arg153Trp) single nucleotide variant Uncertain significance rs199906865 3:52325055-52325055 3:52291039-52291039
6 GLYCTK NM_145262.4(GLYCTK): c.1448del (p.Phe483fs) deletion not provided rs121909447 3:52327018-52327018 3:52293002-52293002
7 GLYCTK NM_145262.4(GLYCTK): c.1558del (p.Leu520fs) deletion not provided rs121909449 3:52327128-52327128 3:52293112-52293112

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

74
# Symbol AA change Variation ID SNP ID
1 GLYCTK p.Phe493Cys VAR_065909 rs121909448

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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