3-phosphoglycerate dehydrogenase deficiency: An inborn error of serine biosynthesis
3-phosphoglycerate dehydrogenase deficiency: An inborn error of serine biosynthesis
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DOI：
10.1136/adc.74.6.542
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发表时间：
1996-06-01
影响因子：
5.2
通讯作者：
VanSchaftingen, E
中科院分区：
文献类型：
--
作者：
Jaeken, J;Detheux, M;VanSchaftingen, E
两兄弟患有先天性小头畸形、严重精神发育迟滞、张力亢进、癫痫、生长迟缓和性腺功能减退，其脑脊液中丝氨酸浓度明显降低。最小的男孩也有先天性双侧白内障。脑磁共振成像显示髓鞘形成障碍的证据，血浆丝氨酸以及血浆和脑脊液甘氨酸浓度也降低，但程度较小。在最年轻的患者口服丝氨酸治疗显着增加脑脊液丝氨酸和消除惊厥。在这两个患者的成纤维细胞中，3-磷酸甘油酸脱氢酶（丝氨酸生物合成的第一步）的活性降低（平均对照值的22%和13%）。这是一种罕见的疾病，因为绝大多数氨基酸病是分解代谢缺陷。这是一种严重的，但潜在的可治疗的先天性代谢缺陷，以前没有在人类中报道。
Serine concentrations were markedly decreased ire the cerebrospinal fluid of two brothers with congenital microcephaly profound psychomotor retardation, hypertonia, epilepsy, growth retardation, and hypogonadism. The youngest boy also had congenital bilateral cataract. Magnetic resonance imaging of the brain showed evidence of dysmyelination, Plasma serine as well as plasma and cerebrospinal fluid glycine concentrations were also decreased but to a lesser extent. Treatment with oral serine in the youngest patient significantly increased cerebrospinal fluid serine and abolished the convulsions. In fibroblasts of both patients, a decreased activity was demonstrated of 3-phosphoglycerate dehydrogenase, the first step of serine biosynthesis (22% anal 13% of the mean control value). This is an unusual disorder as the great majority of aminoacidopathies are catabolic defects. It is a severe but potentially treatable inborn error of metabolism that has not been previously reported in man.