MCID: DGL002
MIFTS: 26

D-Glyceric Aciduria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for D-Glyceric Aciduria

MalaCards integrated aliases for D-Glyceric Aciduria:

Name: D-Glyceric Aciduria 57 59 75 13 6
D-Glyceric Acidemia 57 76 59 75
Deficiency of Glycerate Kinase 29 6 73
Glycerate Kinase Deficiency 57 75 40
Non Ketotic Hyperglycinemia Syndrome 53 73
D-Glycerate Kinase Deficiency 53 59
D-Glycericacidemia 53 73
Glycerate Kinase 13
D-Ga 75

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:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


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: 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 west syndrome. An important gene associated with D-Glyceric Aciduria is GLYCTK (Glycerate Kinase). Related phenotypes are intellectual disability and seizures

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 : 75 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 : 76 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 west syndrome 10.1

Symptoms & Phenotypes for D-Glyceric Aciduria

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to D-Glyceric Aciduria:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 hyperreflexia 32 HP:0001347
4 failure to thrive 32 HP:0001508
5 global developmental delay 32 HP:0001263
6 microcephaly 32 HP:0000252
7 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
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 metabolic acidosis 32 HP:0001942
15 encephalopathy 32 HP:0001298
16 opisthotonus 32 HP:0002179
17 hypsarrhythmia 32 HP:0002521
18 nonketotic hyperglycinemia 32 HP:0008288
19 muscular hypotonia of the trunk 32 HP:0008936
20 delayed myelination 32 HP:0012448

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

Publications for D-Glyceric Aciduria

Articles related to D-Glyceric Aciduria:

# Title Authors Year
1
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. ( 28462797 )
2017
2
D-glyceric aciduria. ( 26247153 )
2015
3
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). ( 20949620 )
2010
4
D-glyceric aciduria in a six-month-old boy presenting with West syndrome and autistic behaviour. ( 11930278 )
2002
5
D-(+)-glyceric aciduria in an Afghan hound. ( 9266364 )
1997
6
D-glyceric aciduria: new development. ( 1293396 )
1992
7
D(+)-glyceric aciduria: etiology and clinical consequences. ( 2165585 )
1990
8
D-glycerate kinase deficiency as a cause of D-glyceric aciduria. ( 2537226 )
1989

Variations for D-Glyceric Aciduria

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

75
# Symbol AA change Variation ID SNP ID
1 GLYCTK p.Phe493Cys VAR_065909 rs121909448

ClinVar genetic disease variations for D-Glyceric Aciduria:

6
# 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 Pathogenic rs121909448 GRCh37 Chromosome 3, 52327048: 52327048
3 GLYCTK NM_145262.3(GLYCTK): c.1478T> G (p.Phe493Cys) single nucleotide variant Pathogenic rs121909448 GRCh38 Chromosome 3, 52293032: 52293032
4 GLYCTK GLYCTK, 1-BP DEL, 1558C deletion Pathogenic
5 GLYCTK NM_145262.3(GLYCTK): c.60_62delCTG (p.Trp21del) deletion Uncertain significance GRCh37 Chromosome 3, 52324418: 52324420
6 GLYCTK NM_145262.3(GLYCTK): c.60_62delCTG (p.Trp21del) deletion Uncertain significance GRCh38 Chromosome 3, 52290402: 52290404
7 GLYCTK NM_145262.3(GLYCTK): c.457C> T (p.Arg153Trp) single nucleotide variant Uncertain significance rs199906865 GRCh37 Chromosome 3, 52325055: 52325055
8 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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