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skos:definition |
CSP: autosomal recessive aminoacidopathy characterized by an excess of methylmalonic acid in the blood and urine, with metabolic ketoacidosis, hyperglycinemia, hyperglycinuria and hyperammonemia; results from defects that cause deficiencies of methylmalonyl-CoA mutase.,NCI: A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
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