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 53
Lipoic Acid Biosynthesis Defect 53 59
Lipoate Biosynthesis Defect 53 59

Characteristics:

Orphanet epidemiological data:

59
lipoic acid biosynthesis defect
Inheritance: Autosomal recessive; Age of onset: Childhood,Neonatal;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 34 E88.8
Orphanet 59 ORPHA401854

Summaries for Lipoic Acid Biosynthesis Defects

NIH Rare Diseases : 53 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:

# 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:

41
Heart

Publications for Lipoic Acid Biosynthesis Defects

Articles related to Lipoic Acid Biosynthesis Defects:

# Title Authors PMID Year
1
Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease. 38
28064324 2017
2
Lipoic acid biosynthesis defects. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....