ACY1, aminoacylase 1, 95

N. diseases: 62; N. variants: 11
Disease: Biotinidase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		0.010 Biomarker disease BEFREE The ACY1-deficient individuals were ascertained through urine metabolic screening because of unspecific psychomotor delay (one subject), psychomotor delay with atrophy of the vermis and syringomyelia (one subject), marked muscular hypotonia (one subject), and follow-up for early treated biotinidase deficiency and normal clinical findings (one subject). 16465618 2006