ALDH18A1-related De Barsy syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version May 2024

Newly diagnosed with
ALDH18A1-related De Barsy syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

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.

Don't see your organization here. Let us know here.

Clinical Trials

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