Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 26, Issue 2-3, Pages 299-308Publisher
WILEY
DOI: 10.1023/A:1024453704800
Keywords
-
Ask authors/readers for more resources
Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis ( arginine: glycine amidinotransferase (AGAT) deficiency and guanidinoaceteate methyltransferase (GAMT) deficiency) and creatine transport ( creatine transporter ( CRTR) deficiency). The common clinical denominator of creatine deficiency syndromes is mental retardation and epilepsy, suggesting the main involvement of cerebral grey matter ( grey matter disease). Patients with GAMT deficiency exhibit a more complex clinical phenotype with dystonich hyperkinetic movement disorder and epilepsy that in some cases is unresponsive to pharmacological treatment. The common biochemical denominator of creatine deficiency syndromes is cerebral creatine deficiency which is demonstrated by in vivo proton magnetic resonance spectroscopy. Measurement of guanidinoacetate in body fluids may discriminate GAMT ( high concentration), AGAT ( low concentration) and CRTR ( normal concentration). Further biochemical characteristics include changes in creatine and creatinine concentrations in body fluids. GAMT and AGAT deficiency are treatable by oral creatine supplementation, while patients with CRTR deficiency do not respond to this type of treatment. Further recognition of patients will be of major importance for the estimation of the frequency, for the understanding of phenotypic variations and for treatment strategies.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available