2-aminoadipic 2-oxoadipic aciduria

Orpha code: 79154OMIM code: 204750

Definition

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
Classification

Disease

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl