Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
Pediatr Res
; 77(3): 398-405, 2015 Mar.
Article
in En
| MEDLINE
| ID: mdl-25521922
ABSTRACT
Primary care pediatricians and a variety of specialist physicians strive to define an accurate diagnosis for children presenting with impairment of expressive speech and delay in achieving developmental milestones. Within the past two decades, a group of disorders featuring this presentation have been identified as cerebral creatine deficiency syndromes (CCDS). Patients with these disorders were initially discerned using proton magnetic resonance spectroscopy of the brain within a magnetic resonance imaging (MRI) examination. The objective of this review is to provide the clinician with an overview of the current information available on identifying and treating these conditions. We explain the salient features of creatine metabolism, synthesis, and transport required for normal development. We propose diagnostic approaches for confirming a CCDS diagnosis. Finally, we describe treatment approaches for managing patients with these conditions.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Speech Disorders
/
Creatine
/
Brain Diseases, Metabolic, Inborn
/
Mental Retardation, X-Linked
/
Guanidinoacetate N-Methyltransferase
/
Plasma Membrane Neurotransmitter Transport Proteins
/
Amidinotransferases
/
Amino Acid Metabolism, Inborn Errors
/
Language Development Disorders
/
Intellectual Disability
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Guideline
/
Incidence_studies
/
Prognostic_studies
Country/Region as subject:
America do norte
Language:
En
Journal:
Pediatr Res
Year:
2015
Document type:
Article