Aminoacylase 1 deficiency

Aminoacylase 1 deficiency
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, Intellectual disability, Seizures
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the ACY1 gene
Risks	N/A
Diagnosis	Genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Supportive care
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Aminoacylase 1 deficiency is a rare metabolic disorder caused by mutations in the ACY1 gene. This condition is characterized by a range of symptoms including developmental delay, intellectual disability, and seizures.

Genetics

Aminoacylase 1 deficiency is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The ACY1 gene provides instructions for making an enzyme called aminoacylase 1, which is involved in the breakdown of N-acetylated amino acids.

Symptoms

The symptoms of aminoacylase 1 deficiency can vary but often include:

• Developmental delay
• Intellectual disability
• Seizures
• Hypotonia (reduced muscle tone)
• Ataxia (lack of voluntary coordination of muscle movements)

Diagnosis

Diagnosis of aminoacylase 1 deficiency is typically confirmed through genetic testing that identifies mutations in the ACY1 gene. Additional tests may include metabolic screening and neuroimaging to assess the extent of neurological involvement.

Treatment

There is currently no cure for aminoacylase 1 deficiency. Treatment is focused on managing symptoms and may include:

• Anticonvulsant medications to control seizures
• Physical therapy to improve motor skills
• Occupational therapy to assist with daily activities
• Speech therapy to address communication difficulties

Prognosis

The prognosis for individuals with aminoacylase 1 deficiency varies depending on the severity of symptoms. Early intervention and supportive therapies can improve quality of life.

Research

Ongoing research is focused on understanding the molecular mechanisms of aminoacylase 1 deficiency and developing potential therapies.

See also

• Metabolic disorder
• Genetic disorder
• Inborn errors of metabolism

External links

• [Genetic and Rare Diseases Information Center (GARD) - Aminoacylase 1 deficiency](https://rarediseases.info.nih.gov/diseases/10700/aminoacylase-1-deficiency)