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LIPT1D
MCID: LPY002
MIFTS: 27
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Lipoyltransferase 1 Deficiency (LIPT1D)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Lipoyltransferase 1 Deficiency:Characteristics:Inheritance:
Lipoyltransferase 1 Deficiency:
Autosomal recessive 57
Lipoyl Transferase 1 Deficiency:
Autosomal recessive 58
Prevelance:
Lipoyl Transferase 1 Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Lipoyl Transferase 1 Deficiency:
Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy symptoms present as acute metabolic and clinical decompensation associated with infection death in infancy (patient b) two unrelated patients have been reported (last curated april 2015) Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Respiratory diseases Muscle diseases
ICD10:
32
Orphanet: 58
Inborn errors of metabolism |
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Orphanet: 58 Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension. MalaCards based summary: Lipoyltransferase 1 Deficiency, also known as lipoyl transferase 1 deficiency, is related to lactic acidosis and inherited metabolic disorder. An important gene associated with Lipoyltransferase 1 Deficiency is LIPT1 (Lipoyltransferase 1). Affiliated tissues include liver, and related phenotypes are global developmental delay and elevated hepatic transaminase UniProtKB/Swiss-Prot: 73 A disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension.
More information from OMIM:
616299
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Diseases related to Lipoyltransferase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Lipoyltransferase 1 Deficiency:30 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:616299 (Updated 08-Dec-2022) |
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Organs/tissues related to Lipoyltransferase 1 Deficiency:
MalaCards :
Liver
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Articles related to Lipoyltransferase 1 Deficiency:
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Genes related to Lipoyltransferase 1 Deficiency (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lipoyltransferase 1 Deficiency:5 (show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Lipoyltransferase 1 Deficiency:73
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Search
GEO
for disease gene expression data for Lipoyltransferase 1 Deficiency.
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