169. Inherited Metabolic Disorders and the Skin

  1. Alan D. Irvine MD, FRCPI, FRCP2,3,
  2. Peter H. Hoeger MD4,5 and
  3. Albert C. Yan MD, FAAP, FAAD6,7
  1. Johannis B. C. de Klerk MD and
  2. Arnold P. Oranje MD, PhD

Published Online: 24 MAY 2011

DOI: 10.1002/9781444345384.ch169

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

How to Cite

de Klerk, J. B. C. and Oranje, A. P. (2011) Inherited Metabolic Disorders and the Skin, in Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition (eds A. D. Irvine, P. H. Hoeger and A. C. Yan), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444345384.ch169

Editor Information

  1. 2

    Trinity College, Dublin, Ireland

  2. 3

    Our Lady's Children's Hospital, Dublin, Ireland

  3. 4

    University of Hamburg, Hamburg, Germany

  4. 5

    Catholic Children's Hospital Wilhelmstift, Hamburg, Germany

  5. 6

    University of Pennsylvania School of Medicine, Philadelphia, PA, USA

  6. 7

    The Children's Hospital of Philadelphia, Philadelphia, PA, USA

Author Information

  1. Department of Pediatrics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands

Publication History

  1. Published Online: 24 MAY 2011
  2. Published Print: 3 JUN 2011

ISBN Information

Print ISBN: 9781405176958

Online ISBN: 9781444345384

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Keywords:

  • inherited metabolic disorders - and the skin;
  • inborn errors of metabolism - autosomal recessive disorders;
  • aminoacidopathies - phenylketonuria/hyperphenylalaninaemia;
  • classification of inborn errors of metabolism;
  • skin symptoms of metabolic diseases – and metabolic disorders;
  • phenylketonuria, genetically determined disease - with autosomal recessive inheritance;
  • classic PKU, phenylalanine-restricted diet - psychomotor delay prevention;
  • homocystinuria, cystathionine β-synthase (CBS) deficiency - genetic disorder of trans-sulphuration;
  • biotinidase deficiency, autosomal recessive rare disease - deficient enzyme activity in serum;
  • genetic hyperlipoproteinaemias - lipoprotein structural component defects

Summary

This chapter contains sections titled:

  • Introduction

  • Aminoacidopathies

  • Organic acidurias

  • Transport defects

  • Lysosomal storage diseases

  • Hyperlipoproteinaemias

  • Acrodermatitis enteropathica

  • References