Pavone L, Mollica F, Levy H L
Arch Dis Child. 1975 Aug;50(8):637-41. doi: 10.1136/adc.50.8.637.
Three clinically normal sibs were discovered to have type II hyperprolinaemia in a routine serum amino acid screening programme in Sicily. In addition to the basic biochemical features of type II hyperprolinaemia, all 3 children had marked hyperglycinaemia, whereas their parents had both normal blood proline and glycine concentrations. Clinical normality in individuals with hyperprolinaemia may suggest that these two metabolic disorders (types I and II) are benign entities. Furthermore, the absence of clinical abnormality in these sibs, despite the presence of marked hyperprolinaemia and hyperglycinaemia, may suggest that neither of these findings alone causes brain damage. The hyperglycinaemia in these sibs is unexplained and is an unusual if not unique finding in association with hyperprolinaemia.
在西西里岛的一项常规血清氨基酸筛查项目中，发现三名临床正常的同胞患有II型高脯氨酸血症。除了II型高脯氨酸血症的基本生化特征外，所有这三名儿童都有明显的高甘氨酸血症，而他们的父母血液中的脯氨酸和甘氨酸浓度均正常。高脯氨酸血症患者的临床正常可能表明这两种代谢紊乱（I型和II型）是良性病症。此外，尽管这些同胞存在明显的高脯氨酸血症和高甘氨酸血症，但没有临床异常情况，这可能表明这些发现单独都不会导致脑损伤。这些同胞中的高甘氨酸血症原因不明，而且与高脯氨酸血症相关联的话，就算不是独一无二的发现，也是不寻常的。
