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

Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities; Nelaba

Table of contents:

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).

Genes related to Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities; Nelaba

  • LIPT2

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Clinical Features

Top most frequent phenotypes and symptoms related to Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities; Nelaba

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ventriculomegaly
  • Respiratory insufficiency
  • Dystonia
  • Cerebral atrophy
  • Absent speech
  • Encephalopathy

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities; Nelaba Is also known as lipt2d, lipoyltransferase 2 deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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