Aminoacylase 1 deficiency
| Aminoacylase 1 deficiency | |
|---|---|
| Aminoacylase 1 deficiency is inherited in an autosomal recessive manner | |
| Synonyms | Neurological conditions associated with aminoacylase 1 deficiency |
| Pronounce | |
| Field | |
| Symptoms | |
| Complications | |
| Onset | |
| Duration | |
| Types | |
| Causes | |
| Risks | |
| Diagnosis | |
| Differential diagnosis | |
| Prevention | |
| Treatment | |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Aminoacylase 1 deficiency is a rare inborn error of metabolism. To date only 21 cases have been described.[1][2]
Signs and symptoms[edit | edit source]
The clinical picture is heterogeneous and includes motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Genetics[edit | edit source]
This disorder in inherited in an autosomal recessive fashion.
Molecular biology[edit | edit source]
Aminoacylase 1 (ACY1: EC 3.5.14) is a zinc binding enzyme which hydrolyzes N-acetyl amino acids into the free amino acid and acetic acid. Of the N-acetyl amino hydrolyzing enzymes, aminoacylase 1 is the most common.
The ACY1 gene is located on the short arm of chromosome 3 (3p21.2).
Diagnosis[edit | edit source]
There is a specific pattern of N-acetyl amino acid excretion in the urine. The diagnosis can be confirmed by sequencing of the aminoacylase 1 gene.
Treatment[edit | edit source]
![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (November 2017) |
History[edit | edit source]
This disorder was first reported in 2005.[3]
References[edit | edit source]
- ↑ Ferri L, Funghini S, Fioravanti A, Biondi E, La Marca G, Guerrini R, Donati M, Morrone A (2013) Aminoacylase I deficiency due to ACY1 mRNA exon skipping. Clin Genet doi: 10.1111/cge.12297
- ↑ 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 (2006) Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet 78(3):401-409
- ↑ Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W (2005) Aminoacylase I deficiency: a novel inborn error of metabolism. Biochem Biophys Res Commun 338(3):1322-1326
External links[edit | edit source]
| Classification |
|
|---|---|
| External resources |
|
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
