Current status of surviving patients with arginase 1 deficiency in Japan
| Autor: | Kimitoshi Nakamura, Chiemi Hayasaka, Yoko Nakajima, Jun Kido, Shirou Matsumoto, Fumio Endo, Jiro Kagawa, Keitaro Yamada, Eiko Takeshita, Hiroyuki Iijima, Tetsuya Ito |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Medicine (General)
Pediatrics medicine.medical_specialty Urea cycle disorder WAIS Wechsler Adult Intelligence Scale QH301-705.5 medicine.medical_treatment Hyperargininemia Disease Liver transplantation complex mixtures Epilepsy R5-920 Endocrinology Cholestasis Genetics medicine Biology (General) ARG1 Molecular Biology LT Liver transplant business.industry HPT Hepaplastin test UCD Urea cycle disorder medicine.disease Arginase 1 deficiency Arginase GAA Guanidino acetate CT Computed tomography business NBS Newborn screening Research Paper WISC Wechsler Intelligence Scale for Children |
| Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100805-(2021) |
| ISSN: | 2214-4269 |
| Popis: | Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological manifestations and sometimes present with severe hepatic disease. We previously investigated the status of UCDs in Japan; however, only one patient was identified as having ARG1 deficiency. Therefore, we aimed to investigate the current status of patients with ARG1 deficiency in 2018–2021 because almost 10 years have passed since the previous study. We present the disease history, clinical outcome, and treatment of five surviving patients with ARG1 deficiency and discuss the features of ARG1 deficiency in Japan. We found that clinicians often face difficulty in diagnosing ARG1 deficiency at the early stage of onset because of interpatient variability in onset time and clinical manifestations. Blood L-arginine and guanidino compounds were considered to be the major factors causing adverse neurodevelopmental outcomes. Therefore, early detection and intervention of ARG1 deficiency is essential for improved neurodevelopmental outcomes. Liver transplantation has been considered an effective treatment option that can dramatically improve the quality of life of patients, prior to the neurological manifestation of symptoms caused by ARG1 deficiency. |
| Databáze: | OpenAIRE |
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