MCID: TRC120
MIFTS: 16

Tricarboxylic Acid Cycle, Defect of

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Tricarboxylic Acid Cycle, Defect of

MalaCards integrated aliases for Tricarboxylic Acid Cycle, Defect of:

Name: Tricarboxylic Acid Cycle, Defect of 56 29
Diseases of the Tricarboxylic Acid Cycle 36
Tricarboxylic Acid Cycle Disorder 58
Citric Acid Cycle Disorder 58
Krebs Cycle Disorder 58
Tca Cycle Disorder 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
tricarboxylic acid cycle, defect of:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM 56 275370
KEGG 36 H01022
ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA254749
MedGen 41 C1848746
SNOMED-CT via HPO 68 258211005 88425004

Summaries for Tricarboxylic Acid Cycle, Defect of

KEGG : 36 Diseases of the tricarboxylic acid cycle (TCA cycle) constitute a group of rare human diseases that affect core mitochondrial metabolism. The Fumarase deficiency is caused by impairment of the fumarate hydratase enzyme. The symptoms of the disorder include developmental delay, severe mental retardation, language impairment, seizures and dysmorphic facial features. The succinate dehydrogenase deficiency affects mitochondrial complex II, which links the TCA cycle with the electron transport chain. The phenotype is highly variable and can include Leigh syndrome, leukodystrophy, cardiomyopathy and mental and motor skill deterioration. The alpha-ketoglutarate dehydrogenase deficiency is extremely rare and characterised by encephalopathy and hyperlactatemia resulting in death in early childhood.

MalaCards based summary : Tricarboxylic Acid Cycle, Defect of, also known as diseases of the tricarboxylic acid cycle, is related to fumarase deficiency and fumarate hydratase deficiency. Among its related pathways/superpathways is Citrate cycle (TCA cycle). Affiliated tissues include skeletal muscle, and related phenotypes are abnormality of the nervous system and decreased activity of the pyruvate dehydrogenase complex

More information from OMIM: 275370

Related Diseases for Tricarboxylic Acid Cycle, Defect of

Diseases related to Tricarboxylic Acid Cycle, Defect of via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fumarase deficiency 10.1
2 fumarate hydratase deficiency 10.1
3 mitochondrial disorders 10.1

Symptoms & Phenotypes for Tricarboxylic Acid Cycle, Defect of

Human phenotypes related to Tricarboxylic Acid Cycle, Defect of:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 31 HP:0000707
2 decreased activity of the pyruvate dehydrogenase complex 31 HP:0002928
3 persistent lactic acidosis 31 HP:0004898

Symptoms via clinical synopsis from OMIM:

56
Metabolic:
persistent lactic acidosis

Lab:
pyruvate dehydrogenase complex deficiency

Neuro:
severe generalized neurologic disease

Clinical features from OMIM:

275370

Drugs & Therapeutics for Tricarboxylic Acid Cycle, Defect of

Search Clinical Trials , NIH Clinical Center for Tricarboxylic Acid Cycle, Defect of

Genetic Tests for Tricarboxylic Acid Cycle, Defect of

Genetic tests related to Tricarboxylic Acid Cycle, Defect of:

# Genetic test Affiliating Genes
1 Tricarboxylic Acid Cycle, Defect of 29

Anatomical Context for Tricarboxylic Acid Cycle, Defect of

MalaCards organs/tissues related to Tricarboxylic Acid Cycle, Defect of:

40
Skeletal Muscle

Publications for Tricarboxylic Acid Cycle, Defect of

Articles related to Tricarboxylic Acid Cycle, Defect of:

# Title Authors PMID Year
1
An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis. 56
5032527 1972
2
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. 61
27913098 2017

Variations for Tricarboxylic Acid Cycle, Defect of

Expression for Tricarboxylic Acid Cycle, Defect of

Search GEO for disease gene expression data for Tricarboxylic Acid Cycle, Defect of.

Pathways for Tricarboxylic Acid Cycle, Defect of

Pathways related to Tricarboxylic Acid Cycle, Defect of according to KEGG:

36
# Name Kegg Source Accession
1 Citrate cycle (TCA cycle) hsa00020

GO Terms for Tricarboxylic Acid Cycle, Defect of

Sources for Tricarboxylic Acid Cycle, Defect of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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