Creatine deficiency in the brain: a new, treatable inborn error of metabolism.
Pediatr Res
; 36(3): 409-13, 1994 Sep.
Article
en En
| MEDLINE
| ID: mdl-7808840
ABSTRACT
In a patient with extrapyramidal movement disorder and extremely low creatinine concentrations in serum and urine, in vivo proton magnetic resonance spectroscopy disclosed a generalized depletion of creatinine in the brain. Oral substitution of arginine, a substrate for creatine synthesis, resulted in an increase of brain guanidinoacetate as the immediate precursor of creatine but did not elevate cerebral creatine levels. In contrast, oral substitution of creatine-monohydrate led to a significant increase of brain creatine, a decrease of brain guanidinoacetate, and a normalization of creatinine in serum and urine. Phosphorus magnetic resonance spectroscopy of the brain revealed no detectable creatine-phosphate before oral substitution of creatine and a significant increase afterward. Partial restoration of cerebral creatine concentrations was accompanied by improvement of the patient's neurologic symptoms. This is the first report of a patient with complete creatine deficiency in the brain. Magnetic resonance spectroscopy during arginine and creatine treatment point to an inborn error of creatine biosynthesis at the level of guanidinoacetete-methyltransferase.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fosfocreatina
/
Encéfalo
/
Creatina
/
Errores Innatos del Metabolismo
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Res
Año:
1994
Tipo del documento:
Article
País de afiliación:
Alemania