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://www.orphadata.org. Data version February 2026
Newly diagnosed with
ALDH18A1-related De Barsy syndrome?
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Advocacy Organizations
Charcot-Marie-Tooth Association
Our mission … to support the development of new treatments for CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision … a world without CMT. CMTA was started by patients in 1986, and to this day is powered by a community of patients who are engaged in helping carry out and support our mission.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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.
Myhre Syndrome Foundation
We aim to safely bring the best possible treatments to the Myhre syndrome community. We’re building tools to test a wide range of therapies—from existing drugs to DNA repair.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.