ACY1, aminoacylase 1, 95

N. diseases: 62; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.010 Biomarker group BEFREE Our report extends the clinical spectrum of ACY1 deficiency to include dystonia and indicates that screening for organic acidurias deserves consideration in patients with unexplained generalized dystonia. 26686503 2016