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ENSaccharopinuria
Alias:
Saccharopine Dehydrogenase Deficiency
Hyperlysinemia Type Ii
Alpha-Aminoadipic Semialdehyde Synthase Deficiency
Hyperlysinemia, Type Ii
Hyperlysinemia, Type I
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Saccharopinuria, also known as saccharopine dehydrogenase deficiency, is related to hyperlysinemia, type i and citrullinemia, classic, and has symptoms including seizures An important gene associated with Saccharopinuria is AASS (Aminoadipate-Semialdehyde Synthase). Affiliated tissues include liver, and related phenotypes are abnormality of circulating enzyme level and hyperlysinemia
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MALACARDS
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