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首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel.
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Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel.

机译：戊二酸尿症1型：来自以色列的患者的临床，生化和分子检查结果。

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摘要

Glutaric aciduria type 1 (GA1) is a rare cerebral organic aciduria which typically manifests as an acute encephalopathic crisis followed by profound long-term neurological handicap. We report the diagnosis of 12 new patients from a single laboratory in Israel during a 5-year period. Eleven of the 12 were of Palestinian origin, and only two were related. One patient was asymptomatic whilst one was mildly, one moderately and nine severely affected, two of whom had unusual MRI findings. Two patients had normal glutaric acid excretion and normal blood glutarylcarnitine levels yet glutarylcarnitine excretion was increased, indicating its utility as a diagnostic marker. Four novel GCDH mutations (Thr193_Arg194insHis, Asn329Ser, Thr341Pro, Met405Val) and five previously reported mutations (Ser119Leu, Leu283Pro, Ala293Thr, Gly390Arg and Thr416Ile) were identified. Severely and mildly affected or even asymptomatic patients shared the same genotypes (Thr416Ile/Thre416Ile and Aal293Thr/Thr193_Arg194insHis). Knowledge of the responsible mutation enabled successful prenatal diagnosis on chorionic villous DNA in three families. In conclusion, GA1 is genetically heterogeneous and has a relatively high incidence in the Palestinian population, reflecting the historical tradition of marriages within extended kindreds, particularly in isolated villages. Additional genetic and/or environmental factors must account for the phenotypic heterogeneity in patients with the same genotype. The diagnosis was not suspected in the majority of cases despite typical clinical and/or neuroimaging features, suggesting that glutaric aciduria may be under-diagnosed. Greater awareness of glutaric aciduria amongst pediatricians, neonatologists and radiologists is the key to identifying the disorder in the presymptomatic phase and preventing its catastrophic consequences.
机译：戊二酸尿症1型（GA1）是一种罕见的脑性有机酸尿症，通常表现为急性脑病性危象，随后是长期的严重神经功能障碍。我们报告了在5年的时间内从以色列的一个实验室对12名新患者的诊断。 12个中有11个是巴勒斯坦人，只有2个是巴勒斯坦人。一名患者无症状，而一名轻度，一名中度和九名严重受影响，其中两名有异常的MRI表现。两名患者的戊二酸排泄正常，血液中的戊二酰肉碱水平正常，但戊二酰肉碱的排泄量增加，表明其可作为诊断指标。确定了四个新的GCDH突变（Thr193_Arg194insHis，Asn329Ser，Thr341Pro，Met405Val）和五个先前报道的突变（Ser119Leu，Leu283Pro，Ala293Thr，Gly390Arg和Thr416Ile）。重度和轻度甚至无症状的患者具有相同的基因型（Thr416Ile / Thre416Ile和Aal293Thr / Thr193_Arg194insHis）。负责任的突变的知识使三个家庭的绒毛膜绒毛DNA成功产前诊断。总之，GA1在遗传上是异质的，在巴勒斯坦人口中发病率相对较高，反映出扩展的亲戚，特别是在偏远村庄内婚姻的历史传统。其他遗传和/或环境因素必须说明具有相同基因型的患者的表型异质性。尽管具有典型的临床和/或神经影像学特征，但在大多数病例中均未怀疑诊断，提示戊二酸尿症可能未得到充分诊断。在儿科医生，新生儿科医生和放射科医生中，对戊二酸尿症的进一步了解是识别症状前期疾病并预防其灾难性后果的关键。

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