Aminoacylase 1 deficiency

Aminoacylase 1 Deficiency

Aminoacylase 1 deficiency (pronunciation: a-mi-no-a-ci-lase one de-fi-ci-en-cy) is a rare metabolic disorder that primarily affects the nervous system.

Etymology

The term "Aminoacylase 1 deficiency" is derived from the name of the enzyme, Aminoacylase 1, which is deficient in individuals with this disorder. The term "deficiency" is derived from the Latin word 'deficientia', meaning 'a lack or shortage'.

Definition

Aminoacylase 1 deficiency is a disorder that impairs the body's ability to break down certain amino acids. This condition is caused by mutations in the ACY1 gene and is inherited in an autosomal recessive manner.

Symptoms

Symptoms of Aminoacylase 1 deficiency can vary widely among affected individuals. They may include developmental delay, intellectual disability, seizures, and hypotonia (reduced muscle tone).

Diagnosis

Diagnosis of Aminoacylase 1 deficiency is based on the presence of characteristic clinical findings, specialized laboratory testing, and confirmed by molecular genetic testing of the ACY1 gene.

Treatment

There is currently no cure for Aminoacylase 1 deficiency. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures.

Related Terms

• Metabolic disorder
• Nervous system
• Amino acids
• ACY1 gene
• Autosomal recessive
• Developmental delay
• Intellectual disability
• Seizures
• Hypotonia

External links

• Medical encyclopedia article on Aminoacylase 1 deficiency
• Wikipedia's article - Aminoacylase 1 deficiency

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