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Article
March 1976

Biochemical Genetics in Neurology

Author Affiliations

From the Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Disorders and Stroke, Bethesda, Md.

Arch Neurol. 1976;33(3):145-151. doi:10.1001/archneur.1976.00500030001001
Abstract

Remarkable advances in the past five years now permit the control of an important segment of hereditary disorders of metabolism that cause central nervous system (CNS) damage. The application of this knowledge has provided immense relief of human suffering and distress. It is therefore exigent that neurologists be aware of these developments and how they may be applied to patients. This article describes briefly how we learned the causes of ten inherited lipid storage diseases and indicates how this information is used to control the incidence of these disorders. It also provides a précis of the current status of research in mucopolysaccharide storage diseases, and concludes with a demonstration of a new concept in hereditary neurologic diseases caused by a defect in the synthesis of critical brain components.

LIPID STORAGE DISEASES 

Clinical Descriptions  Physicians have been aware of clinical manifestations of several of the lipidoses for nearly a century.

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