LIPT1D
MCID: LPY002
MIFTS: 27

Lipoyltransferase 1 Deficiency (LIPT1D)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Lipoyltransferase 1 Deficiency

MalaCards integrated aliases for Lipoyltransferase 1 Deficiency:

Name: Lipoyltransferase 1 Deficiency 57 73
Lipoyl Transferase 1 Deficiency 58 28 5
Lipt1d 57 73

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:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Lipoyltransferase 1 Deficiency

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

Related Diseases for Lipoyltransferase 1 Deficiency

Diseases related to Lipoyltransferase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lactic acidosis 10.1
2 inherited metabolic disorder 10.1
3 optic nerve disease 9.6 MITD1 LIPT1
4 hypotonia 9.5 MITD1 LIPT1

Symptoms & Phenotypes for Lipoyltransferase 1 Deficiency

Human phenotypes related to Lipoyltransferase 1 Deficiency:

30 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 30 HP:0001263
2 elevated hepatic transaminase 30 HP:0002910
3 increased serum lactate 30 HP:0002151
4 abnormality of extrapyramidal motor function 30 HP:0002071
5 dystonia 30 HP:0001332
6 pulmonary arterial hypertension 30 HP:0002092
7 lactic acidosis 30 HP:0003128
8 cerebellar atrophy 30 HP:0001272
9 spastic tetraparesis 30 HP:0001285
10 abnormal cerebral white matter morphology 30 HP:0002500
11 increased total bilirubin 30 HP:0003573
12 decreased liver function 30 HP:0001410
13 bradycardia 30 HP:0001662
14 delayed myelination 30 HP:0012448
15 axial hypotonia 30 HP:0008936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hypertonia
dystonic movements
delayed psychomotor development (patient a)
truncal hypotonia (patient a)
spastic tetraparesis (patient a)
more
Metabolic Features:
lactic acidosis

Cardiovascular Heart:
bradycardia (patient b)

Laboratory Abnormalities:
increased serum lactate
abnormal liver enzymes
increased bilirubin (patient b)
increased serum alpha-ketoglutarate
increased serum alpha-alanine (patient b)
more
Abdomen Liver:
liver dysfunction

Cardiovascular Vascular:
pulmonary hypertension (patient b)

Clinical features from OMIM®:

616299 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lipoyltransferase 1 Deficiency

Search Clinical Trials, NIH Clinical Center for Lipoyltransferase 1 Deficiency

Genetic Tests for Lipoyltransferase 1 Deficiency

Genetic tests related to Lipoyltransferase 1 Deficiency:

# Genetic test Affiliating Genes
1 Lipoyl Transferase 1 Deficiency 28 LIPT1

Anatomical Context for Lipoyltransferase 1 Deficiency

Organs/tissues related to Lipoyltransferase 1 Deficiency:

MalaCards : Liver

Publications for Lipoyltransferase 1 Deficiency

Articles related to Lipoyltransferase 1 Deficiency:

# Title Authors PMID Year
1
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. 57 5
24256811 2014
2
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. 57 5
24341803 2013
3
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans. 62 5
31042466 2019

Variations for Lipoyltransferase 1 Deficiency

ClinVar genetic disease variations for Lipoyltransferase 1 Deficiency:

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIPT1, MITD1 NM_145199.3(LIPT1):c.980T>G (p.Leu327Ter) SNV Pathogenic
242525 rs863224893 GRCh37: 2:99779400-99779400
GRCh38: 2:99162937-99162937
2 LIPT1, MITD1 NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) SNV Pathogenic
Pathogenic
285871 rs137891647 GRCh37: 2:99779295-99779295
GRCh38: 2:99162832-99162832
3 LIPT1, MITD1 NM_145199.3(LIPT1):c.535A>G (p.Thr179Ala) SNV Pathogenic
189834 rs786205156 GRCh37: 2:99778955-99778955
GRCh38: 2:99162492-99162492
4 LIPT1, MITD1 NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) SNV Pathogenic
189836 rs137973334 GRCh37: 2:99778712-99778712
GRCh38: 2:99162249-99162249
5 LIPT1, MITD1 NM_145199.3(LIPT1):c.369del (p.Lys123fs) DEL Likely Pathogenic
420362 rs552120721 GRCh37: 2:99778789-99778789
GRCh38: 2:99162326-99162326
6 LIPT1, MITD1 NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe) SNV Likely Pathogenic
189835 rs767568897 GRCh37: 2:99778632-99778632
GRCh38: 2:99162169-99162169
7 LIPT1, MITD1 NM_145199.3(LIPT1):c.396_399del (p.Leu132_Ile133insTer) MICROSAT Likely Pathogenic
1324665 GRCh37: 2:99778812-99778815
GRCh38: 2:99162349-99162352
8 LIPT1, MITD1 NM_145199.3(LIPT1):c.765_766del (p.Phe256fs) DEL Likely Pathogenic
1324666 GRCh37: 2:99779184-99779185
GRCh38: 2:99162721-99162722
9 LIPT1, MITD1 NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser) SNV Uncertain Significance
433559 rs1468529365 GRCh37: 2:99778551-99778551
GRCh38: 2:99162088-99162088
10 LIPT1, MITD1 NM_145199.3(LIPT1):c.539T>C (p.Leu180Ser) SNV Uncertain Significance
973443 rs1487643005 GRCh37: 2:99778959-99778959
GRCh38: 2:99162496-99162496
11 LIPT1, MITD1 NM_145199.3(LIPT1):c.565T>C (p.Leu189=) SNV Benign
379991 rs2632277 GRCh37: 2:99778985-99778985
GRCh38: 2:99162522-99162522
12 LIPT1, MITD1 NM_145199.3(LIPT1):c.711T>C (p.Ala237=) SNV Benign
379992 rs2516835 GRCh37: 2:99779131-99779131
GRCh38: 2:99162668-99162668

UniProtKB/Swiss-Prot genetic disease variations for Lipoyltransferase 1 Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 LIPT1 p.Ser71Phe VAR_073669 rs767568897
2 LIPT1 p.Arg98Gly VAR_073670 rs137973334
3 LIPT1 p.Thr179Ala VAR_073671 rs786205156

Expression for Lipoyltransferase 1 Deficiency

Search GEO for disease gene expression data for Lipoyltransferase 1 Deficiency.

Pathways for Lipoyltransferase 1 Deficiency

GO Terms for Lipoyltransferase 1 Deficiency

Sources for Lipoyltransferase 1 Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....