2-aminoadipic 2-oxoadipic aciduria

Orpha code: 79154OMIM code: 204750

Definicja

2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. Frequently, individuals are completely without clinical phenotype.

Disease data
Klasyfikacja

Disease

Synonimy
Alpha-aminoadipic aciduria
Acyduria alfa-aminoadypinowa
Kod ORPHA
79154
Kod OMIM
204750
Kod ICD10
E72.3
Kod ICD11
-

No additional description.

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