2-aminoadipic 2-oxoadipic aciduria

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2-aminoadipic 2-oxoadipic aciduria

Synonyms: Alpha-aminoadipic aciduria

A rare disorder of lysine and tryptophan metabolism characterized by 2-aminoadipic and 2-oxoadipic aciduria. Patients may also present with increased urinary excretion of alpha-hydroxyadipic acid. Variable clinical presentations have been found in patients including hypotonia developmental delay mild to severe intellectual disability ataxia epilepsy and behavioral disorders (most commonly attention deficit hyperactivity disorder). However many individuals with the biochemical phenotype are completely asymptomatic and thus the clinical significance of the condition is questionable.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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