LIPT2 gene related symptoms and diseases

All the information presented here about the LIPT2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LIPT2 gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Abnormality of the cerebral white matter Uncommon - Between 30% and 50% cases
Renal cortical cysts Uncommon - Between 30% and 50% cases
Hyperalaninemia Uncommon - Between 30% and 50% cases
Increased serum pyruvate Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with LIPT2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hyperglycinemia
  • Progressive encephalopathy
  • Spastic tetraparesis
  • Tetraparesis
  • Increased serum lactate
  • Delayed myelination
  • Lactic acidosis
  • EEG abnormality

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LIPT2 gene

Here you will find a list of rare diseases related to the LIPT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA


Alternate names

ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA Is also known as lipt2d, lipoyltransferase 2 deficiency

Description

NELABA is a severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. Some patients die in infancy (summary by Habarou et al., 2017).

Most common symptoms of ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ventriculomegaly


More info about ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES; NELABA

SOURCES: OMIM

LIPOYL TRANSFERASE 2 DEFICIENCY



More info about LIPOYL TRANSFERASE 2 DEFICIENCY

SOURCES: ORPHANET




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