MCID: LPC004
MIFTS: 7

Lipoic Acid Biosynthesis Defects

Categories: Rare diseases

Aliases & Classifications for Lipoic Acid Biosynthesis Defects

MalaCards integrated aliases for Lipoic Acid Biosynthesis Defects:

Name: Lipoic Acid Biosynthesis Defects 54
Lipoic Acid Biosynthesis Defect 54
Lipoate Biosynthesis Defect 54

Classifications:



Summaries for Lipoic Acid Biosynthesis Defects

NIH Rare Diseases : 54 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, is also known as lipoic acid biosynthesis defect. 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

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:

42
Heart

Publications for Lipoic Acid Biosynthesis Defects

Articles related to Lipoic Acid Biosynthesis Defects:

# Title Authors Year
1
Lipoic acid biosynthesis defects. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....