ALLMedicine™ Aminoacylase 1 Deficiency Center
Research & Reviews 2 results
Journal of Inherited Metabolic Disease; Tylki-Szymanska A, Gradowska W et. al.
May 19th, 2010 - Aminoacylase 1 (ACY1) deficiency is a recently described inborn error of metabolism. Most of the patients reported so far have presented with rather heterogeneous neurologic symptoms. At this moment, it is not clear whether ACY1 deficiency represe...
Aug 1st, 2008 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137754 Definition An inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid ...