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Adolescents and adults with inborn errors of metabolism

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Published/Copyright: November 1, 2010
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International Journal on Disability and Human Development
From the journal Volume 9 Issue 2-3

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.

Keywords: adolescence; adulthood; inborn errors of metabolism
Corresponding author: Carolyn Bay, MD, Chief, Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, Division of Genetics, University of Kentucky, 740 S. Limestone St., Room J419, Lexington, KY 40536, USA
Received: 2010-1-5
Accepted: 2010-2-15
Published Online: 2010-11-01
Published in Print: 2010-11-01

©2010 by Walter de Gruyter Berlin New York

Articles in the same Issue

  1. Editorial
  2. Adults with childhood illness
  3. Reviews
  4. Attention-Deficit/Hyperactivity Disorder: Epidemiology, assessment, and treatment among children, adolescents, and adults
  5. Caring for adults with cystic fibrosis
  6. Childhood asthma in adults
  7. Cyanotic congenital heart defects in adult patients
  8. Obstructive and regurgitant cardiac lesions in adults who had childhood heart disease
  9. Adults with left-to-right cardiac shunts and with shunts treated in childhood
  10. Transition of pediatric endocrine patients to adult care
  11. Adolescents and adults with inborn errors of metabolism
  12. Adults who had kidney disease in childhood
  13. Adult survivors of childhood cancer
  14. Adults with genetic syndromes
  15. Adult considerations of pediatric urologic care
  16. Adult patients with childhood anemias
  17. Disabled women and reproductive healthcare in the United States
  18. Children with allergic disease as adults
  19. Adults with congenital bleeding disorders
  20. Aging with intellectual disability. Current health issues
  21. Short Communication
  22. Transition from pediatric to adult care: social and family issues
https://doi.org/10.1515/IJDHD.2010.019
Keywords for this article
adolescence; adulthood; inborn errors of metabolism

Articles in the same Issue

  1. Editorial
  2. Adults with childhood illness
  3. Reviews
  4. Attention-Deficit/Hyperactivity Disorder: Epidemiology, assessment, and treatment among children, adolescents, and adults
  5. Caring for adults with cystic fibrosis
  6. Childhood asthma in adults
  7. Cyanotic congenital heart defects in adult patients
  8. Obstructive and regurgitant cardiac lesions in adults who had childhood heart disease
  9. Adults with left-to-right cardiac shunts and with shunts treated in childhood
  10. Transition of pediatric endocrine patients to adult care
  11. Adolescents and adults with inborn errors of metabolism
  12. Adults who had kidney disease in childhood
  13. Adult survivors of childhood cancer
  14. Adults with genetic syndromes
  15. Adult considerations of pediatric urologic care
  16. Adult patients with childhood anemias
  17. Disabled women and reproductive healthcare in the United States
  18. Children with allergic disease as adults
  19. Adults with congenital bleeding disorders
  20. Aging with intellectual disability. Current health issues
  21. Short Communication
  22. Transition from pediatric to adult care: social and family issues
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