Pediatric research, 2015-03, Vol.77 (3), p.398-405
2015
Details
- Autor(en) / Beteiligte
- Titel
- Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes
- Ist Teil von
- Pediatric research, 2015-03, Vol.77 (3), p.398-405
- Ort / Verlag
- United States
- Erscheinungsjahr
- 2015
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0031-3998eISSN: 1530-0447DOI: 10.1038/pr.2014.203Titel-ID: cdi_proquest_miscellaneous_1674207930
- Format
- –
- Schlagworte
- Amidinotransferases - deficiency, Amidinotransferases - genetics, Amino Acid Metabolism, Inborn Errors - diagnosis, Amino Acid Metabolism, Inborn Errors - drug therapy, Amino Acid Metabolism, Inborn Errors - epidemiology, Amino Acid Metabolism, Inborn Errors - genetics, Amino Acid Metabolism, Inborn Errors - pathology, Brain Diseases, Metabolic, Inborn - diagnosis, Brain Diseases, Metabolic, Inborn - drug therapy, Brain Diseases, Metabolic, Inborn - epidemiology, Brain Diseases, Metabolic, Inborn - genetics, Brain Diseases, Metabolic, Inborn - pathology, Creatine - biosynthesis, Creatine - blood, Creatine - deficiency, Creatine - genetics, Creatine - physiology, Creatine - urine, Developmental Disabilities - diagnosis, Developmental Disabilities - drug therapy, Developmental Disabilities - epidemiology, Developmental Disabilities - genetics, Developmental Disabilities - pathology, Female, Guanidinoacetate N-Methyltransferase - deficiency, Guanidinoacetate N-Methyltransferase - genetics, Humans, Incidence, Infant, Intellectual Disability - diagnosis, Intellectual Disability - drug therapy, Intellectual Disability - epidemiology, Intellectual Disability - genetics, Intellectual Disability - pathology, Language Development Disorders - diagnosis, Language Development Disorders - drug therapy, Language Development Disorders - epidemiology, Language Development Disorders - etiology, Language Development Disorders - genetics, Language Development Disorders - pathology, Magnetic Resonance Spectroscopy - methods, Male, Mental Retardation, X-Linked - diagnosis, Mental Retardation, X-Linked - drug therapy, Mental Retardation, X-Linked - epidemiology, Mental Retardation, X-Linked - genetics, Mental Retardation, X-Linked - pathology, Movement Disorders - congenital, Movement Disorders - diagnosis, Movement Disorders - drug therapy, Movement Disorders - epidemiology, Movement Disorders - genetics, Movement Disorders - pathology, Plasma Membrane Neurotransmitter Transport Proteins - deficiency, Plasma Membrane Neurotransmitter Transport Proteins - genetics, Sex Factors, Speech Disorders - diagnosis, Speech Disorders - drug therapy, Speech Disorders - epidemiology, Speech Disorders - genetics, Speech Disorders - pathology, Utah - epidemiology