ASPARTYLGLYCOSAMINURIA
1968; Elsevier BV; Volume: 292; Issue: 7562 Linguagem: Inglês
10.1016/s0140-6736(68)92355-6
ISSN1474-547X
AutoresR. J. Pollitt, F. A. Jenner, H. Merskey,
Tópico(s)Metabolism and Genetic Disorders
ResumoClinical and chemical studies on a brother and sister with severe mental defect showed that both excreted abnormal amounts of 2-acetamido-1-(β'-L-aspartamido)-1, 2-dideoxyglucose. The enzyme responsible for hydrolysing this compound has been demonstrated in normal human seminal fluid, but was apparently absent from that of the brother. A generalised lack of the enzyme would account for the chemical finding in these patients.
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