Kreile M, Lubina O, Ozola-Zalite I, Lugovska R, Pronina N, Sterna O, Vevere P, Konika M, Malniece I, Gailite L
Riga Stradins University, Dzirciema street 16, Riga LV-1007, Latvia.
Children's Clinical University Hospital, Vienibas gatve 46, Riga LV-1004, Latvia.
Mol Genet Metab Rep. 2020 Oct 20;25:100671. doi: 10.1016/j.ymgmr.2020.100671. eCollection 2020 Dec.
Phenylketonuria (PKU) is an inborn error of metabolism characterized by pathogenic variants of the phenylalanine hydroxylase () gene with a resulting accumulation of phenylalanine (Phe) to neurotoxic levels. Diagnosis of PKU in the Latvian population began in 1985 and the present study's aim was to evaluate the available data on all PKU patients in Latvia.
The medical records of 116 - DNA sample was available in 110 patients (102 nonrelated individuals) diagnosed with PKU in Latvia were obtained. Phe concentrations were measured in dried blood spots. Genomic DNA was analyzed for pathogenic variants in the gene. Biochemical data were available through follow-up visits of the 83 patients.
In 97% of patients (99 of 102), pathogenic variants were detected on both alleles. With an occurrence of 69.6%%, the most common pathogenic variant was the severe pathogenic variant p.Arg408Trp. The available data for 83 patients revealed that metabolic control was better in younger age groups and worse in adults.
Latvia exhibits a relatively homogeneous pool of disease-causing PKU alleles with a high prevalence of the classical severe form of PKU. Dietary compliance in all patients' groups is lower than expected, especially it is poor in adult age group.
苯丙酮尿症（PKU）是一种先天性代谢缺陷疾病，其特征是苯丙氨酸羟化酶（PAH）基因的致病性变异，导致苯丙氨酸（Phe）积累至神经毒性水平。拉脱维亚人群中PKU的诊断始于1985年，本研究的目的是评估拉脱维亚所有PKU患者的现有数据。
获取了拉脱维亚116名确诊为PKU患者的病历——110名患者（102名非亲属个体）有DNA样本。在干血斑中测量Phe浓度。分析基因组DNA中PAH基因的致病性变异。通过83名患者的随访获得生化数据。
97%的患者（102名中的99名）两个等位基因均检测到致病性变异。最常见的致病性变异是严重致病性变异p.Arg408Trp，发生率为69.6%。83名患者的现有数据显示，代谢控制在较年轻年龄组中较好，在成年人中较差。
拉脱维亚PKU致病等位基因库相对同质，经典严重型PKU患病率较高。所有患者组的饮食依从性均低于预期，尤其是成年组较差。
