Adolescents and adults with inborn errors of metabolism
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Carolyn Bay
Abstract
Inborn errors of metabolism (IEM), also known as “metabolic diseases” are a broad group of disorders that share the feature of an abnormality, commonly an enzymatic abnormality, affecting the intermediary metabolism of proteins, carbohydrates and fats. This review provides an overview of metabolic diseases and discusses current and recent advances in diagnostic and treatment options. We provide an overview of the fundamental types of IEMs and divide them into functional categories. Using phenylketonuria as an example we will outline the history of treatment in this prototype metabolic disease and describe some of the challenges clinicians and scientists successfully embraced, and the ongoing challenges we continue to face. Improved identification and definitive diagnosis, combined with ongoing efforts to maximize treatment options has resulted in survival and reduced morbidity of IEM patients. As a result patients with IEMs are surviving into the teen years and adulthood. We expect this trend to continue, with the provision of care, hopefully well into the geriatric age groups.
©2010 by Walter de Gruyter Berlin New York
Artikel in diesem Heft
- Editorial
- Adults with childhood illness
- Reviews
- Attention-Deficit/Hyperactivity Disorder: Epidemiology, assessment, and treatment among children, adolescents, and adults
- Caring for adults with cystic fibrosis
- Childhood asthma in adults
- Cyanotic congenital heart defects in adult patients
- Obstructive and regurgitant cardiac lesions in adults who had childhood heart disease
- Adults with left-to-right cardiac shunts and with shunts treated in childhood
- Transition of pediatric endocrine patients to adult care
- Adolescents and adults with inborn errors of metabolism
- Adults who had kidney disease in childhood
- Adult survivors of childhood cancer
- Adults with genetic syndromes
- Adult considerations of pediatric urologic care
- Adult patients with childhood anemias
- Disabled women and reproductive healthcare in the United States
- Children with allergic disease as adults
- Adults with congenital bleeding disorders
- Aging with intellectual disability. Current health issues
- Short Communication
- Transition from pediatric to adult care: social and family issues
Artikel in diesem Heft
- Editorial
- Adults with childhood illness
- Reviews
- Attention-Deficit/Hyperactivity Disorder: Epidemiology, assessment, and treatment among children, adolescents, and adults
- Caring for adults with cystic fibrosis
- Childhood asthma in adults
- Cyanotic congenital heart defects in adult patients
- Obstructive and regurgitant cardiac lesions in adults who had childhood heart disease
- Adults with left-to-right cardiac shunts and with shunts treated in childhood
- Transition of pediatric endocrine patients to adult care
- Adolescents and adults with inborn errors of metabolism
- Adults who had kidney disease in childhood
- Adult survivors of childhood cancer
- Adults with genetic syndromes
- Adult considerations of pediatric urologic care
- Adult patients with childhood anemias
- Disabled women and reproductive healthcare in the United States
- Children with allergic disease as adults
- Adults with congenital bleeding disorders
- Aging with intellectual disability. Current health issues
- Short Communication
- Transition from pediatric to adult care: social and family issues
