Lin Foong-Yi, Gascon Generoso G, Hyland Keith, Chugani Harry, Chugani Diane
Department of Pediatric Neurology, Hasbro Children's Hospital, Rhode Island Hospital, Providence, RI 02903, USA.
J Child Neurol. 2006 Oct;21(10):900-3. doi: 10.1177/08830738060210101001.
Neonatal nonketotic hyperglycinemia is usually fatal or, less commonly, severely developmentally disabling, whereas transient nonketotic hyperglycinemia has usually been followed by normal development. We report a boy who had transient neonatal nonketotic hyperglycinemia but a coexistent disorder of serotonin metabolism manifested by initially low cerebrospinal fluid 5-hydroxyindoleacetic acid (which later normalized), low whole blood serotonin, and decreased platelet serotonin uptake. He survived the neonatal period but was neurodevelopmentally delayed and developed an autistic-like disorder. Later, his positron emission tomographic (PET) scans with alpha[(11)C] methyl-l-tryptophan revealed a pattern characteristic of autistic children. Although we know of no link between glycine and serotonin metabolism, and our patient had low, rather than high, central and peripheral serotonin, this case might represent a novel infantile disorder that affects both the glycine and serotonin neurotransmitter systems.
新生儿非酮症高甘氨酸血症通常是致命的，或者在较罕见的情况下会导致严重的发育障碍，而短暂性非酮症高甘氨酸血症通常之后发育正常。我们报告了一名患有短暂性新生儿非酮症高甘氨酸血症但同时存在血清素代谢紊乱的男孩，其表现为最初脑脊液中5-羟吲哚乙酸水平低（后来恢复正常）、全血血清素水平低以及血小板血清素摄取减少。他度过了新生儿期，但存在神经发育延迟并发展为类似自闭症的障碍。后来，他用α-[(11)C]甲基-L-色氨酸进行的正电子发射断层扫描（PET）显示出自闭症儿童特有的模式。尽管我们不知道甘氨酸和血清素代谢之间有何联系，且我们的患者中枢和外周血清素水平低而非高，但该病例可能代表了一种影响甘氨酸和血清素神经递质系统的新型婴儿疾病。
