lipoyl transferase 1 deficiency
MONDO:0014576Mondo
Findings
No curated finding names lipoyl transferase 1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlaninuriaHPOHP:0020078
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- HyperglutaminemiaHPOHP:0003217
- 1 of 1 reported patient
- HyperglutaminuriaHPOHP:0025376
- 1 of 1 reported patient
- HyperprolinemiaHPOHP:0008358
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- LacticaciduriaHPOHP:0003648
- 1 of 1 reported patient
- Spastic tetraparesisHPOHP:0001285
- 1 of 1 reported patient
Show the remaining 1
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LIPT1HGNC:29569
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- LIPT2HGNC:37216
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018