China
Africa
Explore chapters and articles related to this topic
Disorders of creatine synthesis or transport
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
The syndromes of cerebral creatine deficiency represent an appreciable cohort of inborn errors of metabolism that interfere with CNS function. An enlarging spectrum of clinical presentation is emerging [7–9], and these diseases are often overlooked. Certainly, patients with CRTR deficiency usually have impaired mental development and seizures. Those with GAMT deficiency may, in addition, have progressive myoclonic epilepsy, but they may have regression with dystonia or hyperkinesis. In contrast, patients with AGAT deficiency, which are much more rare, seldom suffer from seizures but frequently develop progressive muscular weakness at different ages. Most importantly, the syndromes of cerebral creatine deficiency [7–9] should be considered in any patient with developmental delay. The fact that some are effectively treatable [8–11] raises the stakes for early recognition.
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency
Published in Nutritional Neuroscience, 2019
Arginine–glycine amidinotransferase (AGAT) deficiency, also known as cerebral creatine deficiency syndrome 3 (OMIM #612718), is an inherited disorder of creatine metabolism. Since creatine has been recognized as a key compound in cellular bioenergetics in many energy-demanding tissues including the brain, AGAT deficiency seems to severely affect cerebral creatine levels, and brain development and function.1 The AGAT enzyme controls the first step in creatine synthesis (Fig. 1) by transferring a guanidino group from arginine to glycine, thereby producing guanidinoacetic acid (GAA) and ornithine.
Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies
Published in Expert Review of Neurotherapeutics, 2021
Maria Mazurkiewicz-Bełdzińska, Mireia del Toro, Göknur Haliloğlu, Hidde H. Huidekoper, Ružica Kravljanac, Chris Mühlhausen, Brian Nauheimer Andersen, Igor Prpić, Pasquale Striano, Stéphane Auvin
Such rare, but treatable, early childhood metabolic epilepsies include, among others, pyridoxine-dependent epilepsy (PDE), cerebral folate deficiency, cerebral creatine deficiency syndromes, and glucose transporter 1 (GLUT1) deficiency. These diseases exemplify the breadth of nonspecific symptoms that metabolic epilepsies can present with and how clinical tests can raise suspicion before confirmatory diagnostic tests (Table 1).