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GTR Home > Conditions/Phenotypes > Aminoacylase 1 deficiency

Aminoacylase 1 deficiency

Synonyms
ACY1 deficiency; Deficiency of the aminoacylase-1 enzyme; Neurological conditions associated with aminoacylase 1 deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Aminoacylase-1 deficiency (ACY1D) is a rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of specific N-actyl amino acids. Most patients show neurologic abnormalities such as intellectual disability, seizures, hypotonia, and motor delay (summary by Ferri et al., 2014). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACY-1, ACY1D, HEL-S-5, ACY1
    Summary: aminoacylase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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