ALDH18A1-related De Barsy syndrome

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ALDH18A1-related De Barsy syndrome

Synonyms: Delta-1-pyrroline 5-carboxylate synthetase deficiency | Neurocutaneous syndrome, Bicknell type | P5CS deficiency

A rare genetic neurometabolic disease characterized by prenatal and postnatal growth retardation hypotonia failure to thrive large and late-closing fontanel development delay cutis laxa joint laxity progeroid appearance and dysmorphic facial features. In addition corneal opacities cataracts myopia seizures hyperreflexia and athetoid movements have also been associated.

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 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

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