Fatal infantile lactic acidosis with methylmalonic aciduria

Orpha code: 17OMIM code: 245400

Definicja

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

Disease data
Klasyfikacja

Disease

Kod ORPHA
17
Kod OMIM
245400
Kod ICD10
E71.1
Kod ICD11
5C53.20

No additional description.

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