MCID: GLT028
MIFTS: 27

Glutaric Aciduria Iii

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

Aliases & Classifications for Glutaric Aciduria Iii

MalaCards integrated aliases for Glutaric Aciduria Iii:

Name: Glutaric Aciduria Iii 57 73
Glutaryl-Coa Oxidase Deficiency 57 59 75 29 6 40
Ga Iii 57 75
Ga3 57 75
Glutaric Acidemia Type 3 59
Glutaric Aciduria Type 3 59
Glutaric Aciduria 3 75

Characteristics:

Orphanet epidemiological data:

59
glutaric acidemia type 3
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
no consistent disease phenotype
many patients are asymptomatic
treatment with riboflavin has been helpful in some patients


HPO:

32
glutaric aciduria iii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 231690
Orphanet 59 ORPHA35706
UMLS via Orphanet 74 C0342873
ICD10 via Orphanet 34 E72.3
MedGen 42 C0342873
MeSH 44 D000592
UMLS 73 C0342873

Summaries for Glutaric Aciduria Iii

OMIM : 57 Glutaric aciduria III is characterized by an isolated accumulation of glutaric acid. It appears to be a 'non-disease' as it is found in healthy individuals and is associated with inconsistent symptoms in others (summary by Marlaire et al., 2014). (231690)

MalaCards based summary : Glutaric Aciduria Iii, also known as glutaryl-coa oxidase deficiency, is related to glutaric acidemia type iii, and has symptoms including diarrhea and vomiting. An important gene associated with Glutaric Aciduria Iii is SUGCT (Succinyl-CoA:Glutarate-CoA Transferase). The drugs Ganciclovir and Gastrointestinal Agents have been mentioned in the context of this disorder. Related phenotypes are hypertension and hyperthyroidism

UniProtKB/Swiss-Prot : 75 Glutaric aciduria 3: A metabolic disorder due to peroxisomal glutaryl-CoA oxidase deficiency and characterized by the excretion of abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid.

Related Diseases for Glutaric Aciduria Iii

Diseases related to Glutaric Aciduria Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glutaric acidemia type iii 11.2

Symptoms & Phenotypes for Glutaric Aciduria Iii

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
diarrhea
vomiting

Laboratory Abnormalities:
glutaric aciduria
normal urinary 3-hydroxyglutarate level
normal urinary glutarylcarnitine level
normal glutarylglycine level

Cardiovascular Vascular:
hypertension

Endocrine Features:
goiter (rare)
hyperthyroidism (rare)


Clinical features from OMIM:

231690

Human phenotypes related to Glutaric Aciduria Iii:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 hyperthyroidism 32 occasional (7.5%) HP:0000836
3 goiter 32 occasional (7.5%) HP:0000853
4 failure to thrive 32 HP:0001508
5 vomiting 32 HP:0002013
6 diarrhea 32 HP:0002014
7 glutaric aciduria 32 HP:0003150

UMLS symptoms related to Glutaric Aciduria Iii:


diarrhea, vomiting

Drugs & Therapeutics for Glutaric Aciduria Iii

Drugs for Glutaric Aciduria Iii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ganciclovir Approved, Investigational 82410-32-0 3454
2 Gastrointestinal Agents Not Applicable
3 glucagon Not Applicable
4 Glucagon-Like Peptide 1 Not Applicable
5 Hormone Antagonists Not Applicable
6 Hormones Not Applicable
7 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
8 Incretins Not Applicable
9 Ganciclovir triphosphate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Type 1 Diabetes Aerobic and Resistance Exercise (T1-DARE) Completed NCT00148538 Phase 2, Phase 3
2 Inhibition of the Endogenous GIP Response With a GIP Receptor Antagonist Completed NCT03133741 Not Applicable
3 Characteristics of Islet β-cell Functions in Chinese Patients With Graves' Disease Completed NCT02376088 Methimazole

Search NIH Clinical Center for Glutaric Aciduria Iii

Genetic Tests for Glutaric Aciduria Iii

Genetic tests related to Glutaric Aciduria Iii:

# Genetic test Affiliating Genes
1 Glutaryl-Coa Oxidase Deficiency 29 SUGCT

Anatomical Context for Glutaric Aciduria Iii

Publications for Glutaric Aciduria Iii

Articles related to Glutaric Aciduria Iii:

# Title Authors Year
1
Structural and magnetic properties of semiquinonate based Al(iii) and Ga(iii) complexes. ( 28070581 )
2017
2
Electrochemical determination of Ga(III) through formation of Ga(III)-deferrioxamineA B nanostructures on the glassy carbon electrode surface. ( 26717831 )
2016
3
A fluorescent probe for relay recognition of homocysteine and Group IIIA ions including Ga(III). ( 26575984 )
2016
4
Bioactivity of pyridine-2-thiolato-1-oxide metal complexes: Bi(III), Fe(III) and Ga(III) complexes as potent anti-Mycobacterium tuberculosis prospective agents. ( 25261824 )
2014
5
Non-aggregated Ga(III)-phthalocyanines in the photodynamic inactivation of planktonic and biofilm cultures of pathogenic microorganisms. ( 21031201 )
2011
6
Carbon nanotube composite coated platinum electrode for detection of Ga(III). ( 20980100 )
2011
7
New tripodal hydroxypyridinone based chelating agents for Fe(III), Al(III) and Ga(III): Synthesis, physico-chemical properties and bioevaluation. ( 19062099 )
2009
8
Phosphopeptide Purification by IMAC with Fe(III) and Ga(III). ( 21356963 )
2007
9
Tetrakis(thiadiazole)porphyrazines. 4. Direct template synthesis, structure, general physicochemical behavior, and redox properties of Al(III), Ga(III), and In(III) complexes. ( 16270994 )
2005
10
Capillary electrophoretic determination of Ga(III) based on the formation of a heteropolyoxomolybdate complex. ( 12735455 )
2003

Variations for Glutaric Aciduria Iii

UniProtKB/Swiss-Prot genetic disease variations for Glutaric Aciduria Iii:

75
# Symbol AA change Variation ID SNP ID
1 SUGCT p.Arg336Trp VAR_054852 rs137852860

ClinVar genetic disease variations for Glutaric Aciduria Iii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SUGCT NM_024728.2(SUGCT): c.895C> T (p.Arg299Trp) single nucleotide variant Pathogenic rs137852860 GRCh37 Chromosome 7, 40498796: 40498796
2 SUGCT NM_024728.2(SUGCT): c.895C> T (p.Arg299Trp) single nucleotide variant Pathogenic rs137852860 GRCh38 Chromosome 7, 40459197: 40459197
3 SUGCT NM_001193311.1(SUGCT): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs137852861 GRCh37 Chromosome 7, 40277263: 40277263
4 SUGCT NM_001193311.1(SUGCT): c.535C> T (p.Arg179Ter) single nucleotide variant Pathogenic rs137852861 GRCh38 Chromosome 7, 40237664: 40237664
5 SUGCT NM_001193311.1(SUGCT): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs137852862 GRCh37 Chromosome 7, 40228168: 40228168
6 SUGCT NM_001193311.1(SUGCT): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic rs137852862 GRCh38 Chromosome 7, 40188569: 40188569

Expression for Glutaric Aciduria Iii

Search GEO for disease gene expression data for Glutaric Aciduria Iii.

Pathways for Glutaric Aciduria Iii

GO Terms for Glutaric Aciduria Iii

Sources for Glutaric Aciduria Iii

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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