Jamiolkowski Dagmar, Kölker Stefan, Glahn Esther M, Barić Ivo, Zeman Jiri, Baumgartner Matthias R, Mühlhausen Chris, Garcia-Cazorla Angels, Gleich Florian, Haege Gisela, Burgard Peter
Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
Department of Pediatrcis, University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia.
J Inherit Metab Dis. 2016 Mar;39(2):231-41. doi: 10.1007/s10545-015-9887-8. Epub 2015 Aug 27.
Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and other organ systems. So far, there is no systematic study of intellectual functioning, behavioural/emotional problems and health-related quality of life (HRQoL), and how these domains are connected.
Data of 152 patients with OADs (n = 100) and UCDs (n = 52) from the European Registry and Network of intoxication type Metabolic Diseases (E-IMD) using standardized instruments were compared with normative data.
Behavioural/emotional problems are increased in OADs or UCDs patients by a factor of 2.5 (3.0), in female asymptomatic carriers of X-linked inherited UCD ornithine transcarbamylase deficiency (fasOTCD) by a factor of 1.5. All groups show similar patterns of behavioural/emotional problems, not different from epidemiological data. Mental disability (IQ ≤ 70) was found in 31% of OAD, 43% of UCD, but not in fasOTCD subjects. HRQoL was decreased in the physical domain, but in the normal range. Behavioural/emotional problems were significantly associated with intellectual functioning (OR = 6.24, 95%CI: 1.39-27.99), but HRQoL was independent from both variables.
Patients with OADs and UCDs show increased frequencies of mental disability and behavioural/emotional problems. Profiles of behavioural/emotional problems were similar to epidemiological data. Intellectual disability and behavioural/emotional problems were strongly associated. Patients' HRQoL was in the normal range, possibly compensated by coping strategies of their families. Diagnostics and clinical care of OAD/UCD patients should be improved regarding behavioural/emotional, intellectual and quality of life aspects.
有机酸血症（OADs）和尿素循环障碍（UCDs）是先天性代谢紊乱疾病，存在急性和慢性代谢失代偿风险，可导致中枢神经系统和其他器官系统受损。到目前为止，尚未对智力功能、行为/情绪问题及健康相关生活质量（HRQoL）以及这些领域之间的联系进行系统研究。
使用标准化工具，将来自欧洲中毒型代谢疾病登记与网络（E-IMD）的152例OADs患者（n = 100）和UCDs患者（n = 52）的数据与标准数据进行比较。
OADs或UCDs患者的行为/情绪问题增加了2.5倍（3.0倍），X连锁遗传性UCD鸟氨酸转氨甲酰酶缺乏症（fasOTCD）的女性无症状携带者的行为/情绪问题增加了1.5倍。所有组的行为/情绪问题模式相似，与流行病学数据无异。31%的OAD患者、43%的UCD患者存在智力残疾（智商≤70），但fasOTCD受试者中未发现。HRQoL在身体领域有所下降，但仍在正常范围内。行为/情绪问题与智力功能显著相关（OR = 6.24，95%CI：1.39 - 27.99），但HRQoL与这两个变量均无关。
OADs和UCDs患者智力残疾和行为/情绪问题的发生率增加。行为/情绪问题的特征与流行病学数据相似。智力残疾与行为/情绪问题密切相关。患者的HRQoL在正常范围内，可能通过其家庭的应对策略得到了补偿。应在行为/情绪、智力和生活质量方面改进OAD/UCD患者的诊断和临床护理。
