Ting Ting Zhu1,2, Jin Wu1,2, Li Yuan Wang3,4, Xiao Mei Sun5,6. 1. Department of Pediatrics, West China Second University Hospital, Sichuan University, 610041, Chengdu, Sichuan, P. R. China. 2. Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan, China. 3. Department of Pediatrics, West China Second University Hospital, Sichuan University, 610041, Chengdu, Sichuan, P. R. China. wangliyuan008@163.com. 4. Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan, China. wangliyuan008@163.com. 5. Department of Pediatrics, West China Second University Hospital, Sichuan University, 610041, Chengdu, Sichuan, P. R. China. sunxiaomei@scu.edu.cn. 6. Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, Sichuan, China. sunxiaomei@scu.edu.cn.
Abstract
BACKGROUND: Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of PKU and Juvenile Idiopathic Arthritis (JIA) has not been presented. CASE PRESENTATION: The girl was diagnosed with PKU at the age of 1 month confirmed by molecular data. At the age of 3.5 years, she presented with pain and swelling of her right ankle, right knee, and right hip joint. After a serial of examinations, she was diagnosed with JIA and treated with a nonsteroidal anti-inflammatory drug. CONCLUSIONS: We report a rare case of a 4-year-old girl with PKU and JIA, which supports a possible interaction between PKU and JIA. Long-term metabolic disturbance may increase the susceptibility to JIA. Further chronic inflammation could alter the metabolism of tryptophan and tyrosine to increase blood Phe concentration. In addition, corticosteroid and methotrexate therapy for JIA may increase blood Phe concentration.
BACKGROUND:Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of PKU and Juvenile Idiopathic Arthritis (JIA) has not been presented. CASE PRESENTATION: The girl was diagnosed with PKU at the age of 1 month confirmed by molecular data. At the age of 3.5 years, she presented with pain and swelling of her right ankle, right knee, and right hip joint. After a serial of examinations, she was diagnosed with JIA and treated with a nonsteroidal anti-inflammatory drug. CONCLUSIONS: We report a rare case of a 4-year-old girl with PKU and JIA, which supports a possible interaction between PKU and JIA. Long-term metabolic disturbance may increase the susceptibility to JIA. Further chronic inflammation could alter the metabolism of tryptophan and tyrosine to increase blood Phe concentration. In addition, corticosteroid and methotrexate therapy for JIA may increase blood Phe concentration.
Authors: A MacDonald; K Ahring; M F Almeida; A Belanger-Quintana; N Blau; A Burlina; M Cleary; T Coskum; K Dokoupil; S Evans; F Feillet; M Giżewska; H Gokmen Ozel; A S Lotz-Havla; E Kamieńska; F Maillot; A M Lammardo; A C Muntau; A Puchwein-Schwepcke; M Robert; J C Rocha; S Santra; R Skeath; K Strączek; F K Trefz; E van Dam; M van Rijn; F van Spronsen; S Vijay Journal: Mol Genet Metab Date: 2015-10-09 Impact factor: 4.797
Authors: Gerdien A H Korte-Bouws; Eline Albers; Marije Voskamp; Hendrikus Hendriksen; Lidewij R de Leeuw; Onur Güntürkün; Sytze de Roock; Sebastiaan J Vastert; S Mechiel Korte Journal: Pharmaceuticals (Basel) Date: 2019-01-08