MCID: TGL001
MIFTS: 14

Tiglic Acidemia

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Tiglic Acidemia

MalaCards integrated aliases for Tiglic Acidemia:

Name: Tiglic Acidemia 56 52 71
Disorder of Isoleucine Metabolism 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
tiglic acidemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 275190
MedGen 41 C1848793
UMLS 71 C1848793

Summaries for Tiglic Acidemia

MalaCards based summary : Tiglic Acidemia, also known as disorder of isoleucine metabolism, is related to alpha-methylacetoacetic aciduria and propionic acidemia. Affiliated tissues include brain, and related phenotypes are aminoaciduria and episodic abdominal pain

More information from OMIM: 275190

Related Diseases for Tiglic Acidemia

Diseases related to Tiglic Acidemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alpha-methylacetoacetic aciduria 10.0
2 propionic acidemia 10.0

Symptoms & Phenotypes for Tiglic Acidemia

Human phenotypes related to Tiglic Acidemia:

31
# Description HPO Frequency HPO Source Accession
1 aminoaciduria 31 HP:0003355
2 episodic abdominal pain 31 HP:0002574
3 acidosis 31 HP:0001941
4 ketosis 31 HP:0001946

Symptoms via clinical synopsis from OMIM:

56
G I:
episodic abdominal pain

Lab:
tiglyl-coa to alpha-methyl-beta-hydroxybutyryl-coa conversion defect
anion gap
moderate serum ketonemia
tiglic acidemia
tiglic aciduria

Metabolic:
acidosis

Clinical features from OMIM:

275190

Drugs & Therapeutics for Tiglic Acidemia

Search Clinical Trials , NIH Clinical Center for Tiglic Acidemia

Genetic Tests for Tiglic Acidemia

Anatomical Context for Tiglic Acidemia

MalaCards organs/tissues related to Tiglic Acidemia:

40
Brain

Publications for Tiglic Acidemia

Articles related to Tiglic Acidemia:

# Title Authors PMID Year
1
2-Methylbutyrylglycine induces lipid oxidative damage and decreases the antioxidant defenses in rat brain. 61
22967964 2012
2
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 61
20547083 2010
3
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. 61
14729408 2004

Variations for Tiglic Acidemia

Expression for Tiglic Acidemia

Search GEO for disease gene expression data for Tiglic Acidemia.

Pathways for Tiglic Acidemia

GO Terms for Tiglic Acidemia

Sources for Tiglic Acidemia

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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