Lipoic acid synthetase deficiency

Orpha code: 401859OMIM code: 614462

Definicja

Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

Disease data
Klasyfikacja

Disease

Kod ORPHA
401859
Kod OMIM
614462
Kod ICD10
E88.8
Kod ICD11
-

No additional description.

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