Creatine deficiency in the brain: a new, treatable inborn error of metabolism.

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.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Stöckler S,Holzbach U,Hanefeld F,Marquardt I,Helms G,Requart M,Hänicke W,Frahm J

doi

10.1203/00006450-199409000-00023

subject

Has Abstract

pub_date

1994-09-01 00:00:00

pages

409-13

issue

3

eissn

0031-3998

issn

1530-0447

journal_volume

36

pub_type

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