Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities (NELABA)

Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities(来自ICD-11)

别称:

Lipoyltransferase 2 Deficiency

Nelaba

Lipt2d

Encephalopathy, Neonatal, Severe, with Lactic Acidosis and Brain Abnormalities

Lipoyl Transferase 2 Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities, is also known as lipoyltransferase 2 deficiency. An important gene associated with Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities is LIPT2 (Lipoyl(Octanoyl) Transferase 2). Affiliated tissues include brain, and related phenotypes are increased serum lactate and profound global developmental delay

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