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 April 2024
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2-aminoadipic 2-oxoadipic aciduria?
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Louisiana Metabolic Disorders Coalition
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Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
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