MCID: LPC003
MIFTS: 12

Lipoic Acid Synthetase Deficiency

Categories: Rare diseases

Aliases & Classifications for Lipoic Acid Synthetase Deficiency

MalaCards integrated aliases for Lipoic Acid Synthetase Deficiency:

Name: Lipoic Acid Synthetase Deficiency 54
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency 54 74

Classifications:



External Ids:

UMLS 74 C3280887

Summaries for Lipoic Acid Synthetase Deficiency

NIH Rare Diseases : 54 Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Lipoic Acid Synthetase Deficiency, also known as pyruvate dehydrogenase lipoic acid synthetase deficiency, is related to hyperglycinemia, lactic acidosis, and seizures and epilepsy, and has symptoms including seizures, myoclonus and apnea. An important gene associated with Lipoic Acid Synthetase Deficiency is LIAS (Lipoic Acid Synthetase). Related phenotype is Decreased hepcidin::fluc mRNA expression.

Related Diseases for Lipoic Acid Synthetase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 hyperglycinemia, lactic acidosis, and seizures 12.3
2 epilepsy 10.1

Symptoms & Phenotypes for Lipoic Acid Synthetase Deficiency

UMLS symptoms related to Lipoic Acid Synthetase Deficiency:


seizures, myoclonus, apnea, sleep disturbances

GenomeRNAi Phenotypes related to Lipoic Acid Synthetase Deficiency according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 8.62 LIAS RPL9

Drugs & Therapeutics for Lipoic Acid Synthetase Deficiency

Search Clinical Trials , NIH Clinical Center for Lipoic Acid Synthetase Deficiency

Genetic Tests for Lipoic Acid Synthetase Deficiency

Anatomical Context for Lipoic Acid Synthetase Deficiency

Publications for Lipoic Acid Synthetase Deficiency

Articles related to Lipoic Acid Synthetase Deficiency:

# Title Authors Year
1
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. ( 22152680 )
2011

Variations for Lipoic Acid Synthetase Deficiency

Expression for Lipoic Acid Synthetase Deficiency

Search GEO for disease gene expression data for Lipoic Acid Synthetase Deficiency.

Pathways for Lipoic Acid Synthetase Deficiency

GO Terms for Lipoic Acid Synthetase Deficiency

Sources for Lipoic Acid Synthetase Deficiency

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
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