raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79175

Disorder of gamma-aminobutyric acid metabolism

Synonyms: Disorder of GABA metabolism

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enDisorder of gamma-aminobutyric acid metabolismDisorder of GABA metabolism
frTrouble du métabolisme de l'acide gamma-aminobutyriqueTrouble du métabolisme de GABA
deGamma-Amino-Buttersäure-StoffwechselstörungGABA-Stoffwechselstörung
esTrastornos del metabolismo del ácido gamma-aminobutíricoEnfermedad del metabolismo del GABA
itDifetto del metabolismo dell'acido gamma-aminobutirricoDifetto del metabolismo del GABA
nlStoornis van gamma-aminoboterzuurmetabolismeStoornis van GABA-metabolisme
ptDoença do metabolismo do GABA
plZaburzenie metabolizmu kwasu gamma-aminomasłowegoZaburzenie metabolizmu GABA
csPoruchy metabolismu kyseliny gamaaminomáselnéPoruchy metabolismu GABA
ukПорушення обміну гамма-аміномасляної кислотиПорушення метаболізму ГАМК
zhγ-氨基丁酸代谢异常GABA代谢异常
trGama-aminobütirik asit metabolizması bozukluğuGABA metabolizması bozukluğu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-115C59.1Especificvalidated
MONDO698Evalidated
UMLSC4702813Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (2):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card