Endocrine and Metabolic Disorders

Some endocrine and most metabolic disorders in children are present from birth and are caused by an abnormal gene that is inherited from one or both parents. Most of these disorders are rare, but, when they do occur, they can adversely affect normal growth and development unless diagnosed and treated early.

Most of the disorders discussed in this section are caused by abnormalities in the production of enzymes that are vital for the metabolic (chemical) processes of the body. The first disorder covered is congenital adrenal hyperplasia, in which deficiency of an enzyme affects production of one or more hormones by the adrenal glands. As a result, important metabolic processes are disrupted and excessive production of male sex hormones may affect the formation of a female baby’s genitals. The second article introduces a group of rare inherited metabolic disorders, known as inborn errors of metabolism. The articles that follow cover five of these disorders: phenylketonuria, MCADD, galactosaemia, Tay–Sachs disease, and albinism. The section concludes with a general article on growth disorders. Endocrine and metabolic conditions such as diabetes mellitus that affect adults only or adults in addition to children are discussed in hormones and metabolism or in the section that covers the particular body system affected.

Key anatomy

For more information on hormones and metabolism, see Hormones and Metabolism.

Congenital Adrenal Hyperplasia

Inborn Errors of Metabolism




Tay–Sachs Disease


Growth Disorders

From the 2010 revision of the Complete Home Medical Guide © Dorling Kindersley Limited.

The subjects, conditions and treatments covered in this encyclopaedia are for information only and may not be covered by your insurance product should you make a claim.

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