Amino Acid Metabolic Diseases

This group of inherited metabolic diseases results from enzymatic failure in the degradation of amino acids. Accumulated amino acids and their metabolites are toxic to neural tissue. With few exceptions, the diseases are autosomal recessive. Some diseases manifest at birth and have a rapidly progressive course; others, with a more benign course, present with seizures and mental retardation.

Newborns are routinely screened for major amino-acidurias in urine. Prenatal diagnosis is possible by demonstrating abnormal metabolites in amniotic fluid and deficient enzyme activity on cultured amniocytes or chorionic villi. Early diagnosis is important, because dietary restriction and enzyme replacement therapy are effective in several diseases. The pathology varies from predominantly white matter spongiosis to nonspecific neuronal losses in the cortex and deep gray structures.

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