Seizures-intellectual disability due to hydroxylysinuria syndrome

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Seizures-intellectual disability due to hydroxylysinuria syndrome

A rare inborn error of metabolism characterized by infantile onset of global developmental delay severe intellectual disability seizures and movement disorder (including tremor hyperkinesia and myoclonus) associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.

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: // Data version October 2023.

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Seizures-intellectual disability due to hydroxylysinuria syndrome?

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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

For a list of clinical trials in this disease area, please click here.