Neuropediatrics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.
Mol Genet Metab. 2010;99 Suppl 1:S75-8. doi: 10.1016/j.ymgme.2009.10.187.
Cognitive functions were assessed in 9 patients with mild to moderate phenylketonuria (PKU) ranging from 6 to 18 years of age, who were in long-term treatment (>5 years) with 5-9 mg/kg/day tetrahydrobiopterin (BH4) on compassionate use, provided by Schircks Inc. An extensive study of cognitive functions (intelligence quotient (IQ), visuospatial, visual memory, fine motor, executive and attentional functions) was conducted, and behavior was assessed using the ADHD Rating Scale and the Behavior Rating Inventory of Executive Function (BRIEF). All patients had normal IQ (M=107, SD=10). The most notable area of impairment was fine motor function, but no significant difference was found between the PKU patients in BH4 treatment who participated in the current study and PKU patients in dietary treatment who participated in a previous study. These results, however, should be interpreted with caution. It is necessary to conduct further studies with a larger number of patients, using more sensitive tests of motor function and using the formulation of BH4 that is currently available.
认知功能评估了 9 例轻中度苯丙酮尿症（PKU）患者，年龄在 6 到 18 岁之间，他们在同情用药下接受为期> 5 年的治疗，每天服用 5-9 毫克/公斤的四氢生物蝶呤（BH4），该药物由 Schircks Inc. 提供。对认知功能（智商（IQ）、视空间、视觉记忆、精细运动、执行和注意力功能）进行了广泛的研究，并使用 ADHD 评定量表和执行功能行为评定量表（BRIEF）评估行为。所有患者的智商（M=107，SD=10）均正常。最明显的损伤区域是精细运动功能，但在当前研究中接受 BH4 治疗的 PKU 患者和以前研究中接受饮食治疗的 PKU 患者之间，精细运动功能没有发现显著差异。然而，这些结果应该谨慎解释。有必要使用更多敏感的运动功能测试和当前可用的 BH4 制剂，对更多患者进行进一步研究。
