KEGG   DISEASE: Aminoacylase 1 deficiency
Entry
H01146                      Disease                                

Name
Aminoacylase 1 deficiency
Description
Aminoacylase 1 deficiency is an autosomal recessive disease characterized by accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay of psychomotor development and moderate mental retardation have been reported.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01146  Aminoacylase 1 deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H01146  Aminoacylase 1 deficiency
Related
pathway
hsa00220  Arginine biosynthesis
hsa01210  2-Oxocarboxylic acid metabolism
Gene
ACY1 [HSA:95] [KO:K14677]
Comment
Aminoacylase 2, also known as aspartoacylase (ASPA) hydrolyzes specifically N-acetyl-L-aspartate. ASPA deficiency causes spongy degeneration of the brain known as Canavan disease [DS:H00074]
Other DBs
ICD-11: 5C50.E1
MeSH: C538246
OMIM: 609924
Reference
  Authors
Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO
  Title
The molecular basis of aminoacylase 1 deficiency.
  Journal
Biochim Biophys Acta 1812:685-90 (2011)
DOI:10.1016/j.bbadis.2011.03.005
Reference
  Authors
Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H
  Title
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
  Journal
Am J Hum Genet 78:401-9 (2006)
DOI:10.1086/500563

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