Enzyme Defects and the Skeleton

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

4 Scopus citations


Inborn errors of metabolism from enzyme deficiencies can importantly affect the skeleton. This chapter reviews the five types of enzyme defects, which include hypophosphatasia (HPP), mucopolysaccharidoses, homocystinuria, alkaptonuria, and disorders of copper transport. Approximately 350 cases of HPP have been reported, showing a remarkable range of severity with four overlapping clinical forms described according to patient age when skeletal disease is discovered: perinatal, infantile, childhood, and adult. Mucopolysaccharidoses are increasingly treated by marrow cell transplantation or enzyme-replacement therapy. Alkaptonuria is a rare autosomal recessive disorder caused by a deficiency of homogentisic acid oxidase from loss-of-function mutations within the AKU gene. In Menkes disease, inherited as an X-linked recessive trait, boys develop Cu2+ deficiency that leads to kinky, sparse hair, and central nervous system (CNS) disease including mental retardation, seizures, and intracranial hemorrhage.

Original languageEnglish
Title of host publicationPrimer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
Subtitle of host publicationEighth Edition
PublisherWiley Blackwell
Number of pages5
ISBN (Electronic)9781118453926
ISBN (Print)9781118453889
StatePublished - Jul 19 2013


  • Alkaptonuria
  • Copper transport
  • Enzyme defects
  • Homocystinuria
  • Hypophosphatasia (HPP)
  • Mucopolysaccharidoses
  • Skeletal disease

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