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MCID: LPC003
MIFTS: 12
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Lipoic Acid Synthetase Deficiency
Categories:
Rare diseases
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MalaCards integrated aliases for Lipoic Acid Synthetase Deficiency:
Name: Lipoic Acid Synthetase Deficiency
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Classifications: |
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NIH Rare Diseases
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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. |
Diseases related to Lipoic Acid Synthetase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
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UMLS symptoms related to Lipoic Acid Synthetase Deficiency:seizures, myoclonus, apnea, sleep disturbances |
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Articles related to Lipoic Acid Synthetase Deficiency:
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Genes related to Lipoic Acid Synthetase Deficiency (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Lipoic Acid Synthetase Deficiency.
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