| 单词 | saccharopinuria |
| 释义 | saccharopinuriasaccharopinuria[¦sak·ə·rō·pi′nu̇r·ē·ə]saccharopinuriasac·cha·ro·pi·nu·ri·a(sak-ar'ō-pē-nyu'rē-ă), [MIM*268700]saccharopinuriaAn AR condition characterized by abnormal lysine metabolism due to inactivity or absence of aminoadipic semialdehyde-glutamate reductase, EEG abnormalities Clinical Moderate mental retardation, spastic diplegia, short stature Lab ↑ Excretion of saccharopine, lysine, citrulline in urine |
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