MCID: LPC004
MIFTS: 11

Lipoic Acid Biosynthesis Defects

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Lipoic Acid Biosynthesis Defects

MalaCards integrated aliases for Lipoic Acid Biosynthesis Defects:

Name: Lipoic Acid Biosynthesis Defects 52
Lipoic Acid Biosynthesis Defect 52 58
Lipoate Biosynthesis Defect 52 58

Characteristics:

Orphanet epidemiological data:

58
lipoic acid biosynthesis defect
Inheritance: Autosomal recessive; Age of onset: Childhood,Neonatal;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA401854

Summaries for Lipoic Acid Biosynthesis Defects

NIH Rare Diseases : 52 Lipoic acid biosynthesis defects are a group of conditions caused by different enzymatic deficiencies. Lipoate is a cofactor essential for important reactions in humans involving several genes (LIPT1 , LIAS , DLD ) which codifiy different enzymes . Mutations in LIAS have been identified that result in a variant form of nonketotic hyperglycinemia with early-onset convulsions combined with a defect in mitochondrial energy metabolism with encephalopathy and cardiomyopathy (increased size of the heart muscle). LIPT1 deficiency resulted in early death in one patient and in a less severely affected individual with a Leigh-like syndrome clinical features. In DLD gene deficiency the clinical features are very varied depending on which of the affected enzymes is most rate limiting.

MalaCards based summary : Lipoic Acid Biosynthesis Defects, also known as lipoic acid biosynthesis defect, is related to dihydrolipoamide dehydrogenase deficiency and glycine encephalopathy. An important gene associated with Lipoic Acid Biosynthesis Defects is LIPT2 (Lipoyl(Octanoyl) Transferase 2). Affiliated tissues include heart.

Related Diseases for Lipoic Acid Biosynthesis Defects

Diseases related to Lipoic Acid Biosynthesis Defects via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 dihydrolipoamide dehydrogenase deficiency 10.0
2 glycine encephalopathy 10.0

Symptoms & Phenotypes for Lipoic Acid Biosynthesis Defects

Drugs & Therapeutics for Lipoic Acid Biosynthesis Defects

Search Clinical Trials , NIH Clinical Center for Lipoic Acid Biosynthesis Defects

Genetic Tests for Lipoic Acid Biosynthesis Defects

Anatomical Context for Lipoic Acid Biosynthesis Defects

MalaCards organs/tissues related to Lipoic Acid Biosynthesis Defects:

40
Heart

Publications for Lipoic Acid Biosynthesis Defects

Articles related to Lipoic Acid Biosynthesis Defects:

(showing 2, show less)
# Title Authors PMID Year
1
Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease. 61
28064324 2017
2
Lipoic acid biosynthesis defects. 61
24777537 2014

Variations for Lipoic Acid Biosynthesis Defects

Expression for Lipoic Acid Biosynthesis Defects

Search GEO for disease gene expression data for Lipoic Acid Biosynthesis Defects.

Pathways for Lipoic Acid Biosynthesis Defects

GO Terms for Lipoic Acid Biosynthesis Defects

Sources for Lipoic Acid Biosynthesis Defects

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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