Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.

Abstract

Creatine metabolism disorders have so far been described at the level of two synthetic steps, guanidinoacetate N-methyltransferase and arginine:glycine amidinotransferase, and at the level of the creatine transporter 1. Guanidinoacetate N-methyltransferase and arginine:glycine amidinotransferase deficiency respond positively to substitutive treatment with creatine monohydrate. Guanidinoacetate N-methyltransferase deficiency results in a severe neurologic disease (age of onset 3 months to 2 years) characterized by developmental arrest, neurologic deterioration, movement disorders, mental retardation, autistic-like behavior, and epilepsy. Severe early-onset epilepsy with pleomorphic seizures is a key symptom of this disorder. Data suggest that in patients with guanidinoacetate N-methyltransferase deficiency, epilepsy and associated electroencephalographic abnormalities are more responsive to creatine supplementation than to conventional antiepilepsy drugs. Arginine:glycine amidinotransferase and creatine transporter 1 mainly present with mental retardation and severe language disorder. All cases of creatine disorders reported to date have been detected by brain proton magnetic resonance spectroscopy, an expensive technique not routinely used in pediatric neurology. A potential diagnostic strategy to select patients for evaluation using proton magnetic resonance spectroscopy is proposed in this review.

• Authors: Vincenzo Leuzzi
• Journal: Journal of child neurology (J Child Neurol) Vol. 17 Suppl 3 Pg. 3S89-97; discussion 3S97 (Dec 2002) ISSN: 0883-0738 [Print] United States
• PMID: 12597058 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Membrane Transport Proteins
• creatine transporter
• Methyltransferases
• Guanidinoacetate N-Methyltransferase
• Amidinotransferases
• glycine amidinotransferase
• Creatine

Topics

• Amidinotransferases (deficiency)
• Brain (physiopathology)
• Child
• Clinical Laboratory Techniques
• Creatine (metabolism, therapeutic use)
• Electroencephalography
• Epilepsy (etiology)
• Guanidinoacetate N-Methyltransferase
• Humans
• Magnetic Resonance Imaging
• Magnetic Resonance Spectroscopy
• Male
• Membrane Transport Proteins (deficiency)
• Metabolism, Inborn Errors (complications, diagnosis, drug therapy)
• Methyltransferases (deficiency)