Related Experiment Video
Updated: Jun 24, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
Published on: May 24, 2016
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency
V Valayannopoulos1, N Boddaert, K Mention
1Reference Center for Metabolic Disorders, Necker - Enfants Malades Hospital and Université Paris Descartes, 149 rue de Sèvres, 75015 Paris, France. vassili.valaya@nck.aphp.fr
Aims:
Ornithine delta-aminotransferase (OAT) deficiency causes gyrate atrophy (GA) of the retina, as a consequence of high plasma ornithine concentrations. Because creatine synthesis requires the conversion of arginine and glycine into ornithine and guanidinoacetate, high ornithine concentration inhibits this reaction thus causing secondary creatine deficiency. The aim of this study was to evaluate the neuropsychological features and creatine metabolism in patients with GA.
Methods:
The study involved 7 GA patients, aged from 11 to 27 years who underwent neuropsychological evaluation and cerebral proton magnetic resonance spectroscopy (MRS).
Results:
Neurocognitive impairment was found in 5/7 patients, including mental retardation (3/7), school failure (1/7), major visuospatial dyspraxia (1/7), aggressive behavior (3/7) and epilepsy (2/7). Two patients had normal neuropsychological evaluation. Cerebral proton magnetic resonance spectroscopy revealed a profound creatine deficiency in all patients. MRS data were confirmed by decreased levels of creatine and/or guanidinoacetate in plasma and urine in all patients.
Conclusions:
In our group of patients with GA, we found a high prevalence of neurological impairment, not reported so far, and possibly related to secondary creatine deficiency and hyperornithinemia. We propose to treat mentally retarded GA patients with high doses of creatine, as it may normalize brain creatine levels and help to reduce ornithine levels.
More Related Videos
Related Concept Videos
Urea Cycle
Muscle Recovery and Fatigue
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Inborn Errors of Metabolism
ATP Synthase: Mechanism
Drug Dosing in Renal Diseases: Measurement of Serum Creatinine Concentration and Clearance

