Infantile refsum disease
Definition
Infantile refsum disease (IRD) is an inherited disorder characterized by the reduction or absence of cellular peroxisomes and by the accumulation of various unmetabolized substances in the blood and bodily tissues. The disorder arises in infancy and results in visual and hearing impairments, decreased muscle tone, poor growth, mental retardation, decreased coordination, liver damage, and abnormal development of facial structures. There is no cure for the disorder, and treatment is limited to the relief of symptoms.
Description
Living bodies are built up of millions of individual cells specifically adapted to carry out particular functions. Within cells are even smaller structures, called organelles, which perform different jobs and enable the cell to serve its ultimate purpose....
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