Hyper-beta-alaninemia

Orpha code: 309147OMIM code: 237400

Definition

A rare, genetic disorder of pyrimidine metabolism characterized by increased serum beta-alanine levels and severe phenotype including hypotonia, malaise, seizures, respiratory distress, lethargy and encephalopathy. Urinary excretion of beta-alanine, beta-amino-isobutyric acid, taurine, and gamma-amino-butyric acid is also elevated. There have been no further descriptions in the literature since 1994.

Disease data
Classification

Disease

Synonyms
Hyperalaninemia
Hiperalaninemia
ORPHA code
309147
OMIM code
237400
ICD10 code
E79.8
ICD11 code
-

No additional description.

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