Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
J Inherit Metab Dis
; 35(1): 151-7, 2012 Jan.
Article
in En
| MEDLINE
| ID: mdl-21660517
ABSTRACT
BACKGROUND:
X-linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter (CTP) encoded by the SLC6A8 gene. PATIENTS ANDMETHODS:
We report here a series of six patients with severe CTP deficiency, four males and two females; clinical presentations include mild to severe mental retardation (6/6), associated with psychiatric symptoms (5/6 autistic behaviour, chronic hallucinatory psychosis), seizures (2/6) and muscular symptoms (2/4 males). Diagnosis was suspected upon elevated urinary creatine/creatinine (except in one of the female patients) and on a markedly decreased creatine peak on magnetic resonance spectroscopy (MRS). Diagnosis was confirmed by molecular analysis that identified four novel mutations not reported so far, including a mutation found twice in two male patients. All patients were treated successively and according to the same protocol by creatine alone then combined to its precursors, L-glycine and L-arginine for 42 months. RESULTS ANDCONCLUSION:
In our patients, creatine supplementation alone or with its precursors L-glycine and L-arginine showed benefit only in the muscular symptoms of the disease and no improvement in the cognitive and psychiatric manifestations and did not modify brain creatine content on MRS of male and female CTP deficient patients. New treatment strategies are required including creatine derivatives transported independently from CTP or using alternative pathways and transporters.
Full text:
1
Database:
MEDLINE
Main subject:
Membrane Transport Proteins
/
Arginine
/
Creatine
/
Amino Acid Transport Disorders, Inborn
/
Plasma Membrane Neurotransmitter Transport Proteins
/
Glycine
/
Nerve Tissue Proteins
Type of study:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Language:
En
Journal:
J Inherit Metab Dis
Year:
2012
Type:
Article
Affiliation country:
France