Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
Hepatorenal tyrosinemia, which has been referred to as tyrosinemia type 1, tyrosinosis, or hereditary tyrosinemia, was first reported by Sakai and Kitagawa in 1957 [1–3]. The patient reported was the product of a consanguineous mating, who developed progressive liver disease, which led to death following hematemesis and hepatic coma at three years of age. In addition, the patient had rickets, which was resistant to vitamin D. The major metabolic products in the urine were p-hydroxyphenyllactic acid, p-hydroxyphenylpyruvic acid, and p-hydroxyphenylacetic acid, as well as tyrosine. Gentz and colleagues [4], in a report of seven patients with the disease, first characterized the renal component as Fanconi syndrome. It was noted that patients had neurologic crises reminiscent of porphyria [5, 6], and this led to the recognition that δ-aminolevulinic acid was excreted in large amounts [6–9]. Lindblad and colleagues [10] reported that succinylacetone, which they found in the urine of these patients, is an inhibitor of the synthesis of porphobilinogen from δ-aminolevulinic acid. They reasoned that the fundamental defect was in the activity of fumarylacetoacetate hydrolase (Figure 22.1). This was confirmed enzymatically by these investigators [11] and others [12–14].
Aminolevulinic Acid
Anton C. de Groot in Monographs in Contact Allergy, 2021
Aminolevulinic acid is a topically administered metabolic precursor of protoporphyrin IX. After topical administration, aminolevulinic acid is converted to protoporphyrin IX, which is a photosensitizer. When the proper wavelength of light activates protoporphyrin IX, singlet oxygen is produced, resulting in a local cytotoxic effect. Aminolevulinic acid is indicated for use in photodynamic therapy to treat actinic keratoses and superficial basal cell carcinomas. In pharmaceutical products, aminolevulinic acid is employed as aminolevulinic acid hydrochloride (CAS number 5451-09-2, EC number 226-679-5, molecular formula C5H10ClNO3) (1).
Photodynamic Therapy
Henry W. Lim, Nicholas A. Soter in Clinical Photomedicine, 2018
The potential toxicities of topical δ-aminolevulinic acid also need to be defined. In human volunteers, the only described systemic toxicity from relatively large oral dosages of δ-aminolevulinic acid was transient photosensitivity (1–2 days) (49, 50). After limited topical administration, the systemic burden is likely to be negligible.
Comparison of the efficacy of focused ultrasound at different focal depths in treating vulvar lichen sclerosus
Published in International Journal of Hyperthermia, 2023
Ru Jia, Can Wu, Xiaoxu Tang, Miaomiao He, Xinglin Liu, Chang Su, Chengzhi Li
Physical treatment for VLS includes PDT and FxCO2 therapy. PDT remains a clinical challenge, and no standardized treatment protocol regarding the concentration of aminolevulinic acid, incubation time, light source (power and wavelength), exposure time (energy and power density) and number and frequency of VLS treatment repetitions has been established [22,23]. For FxCO2 therapy, randomized controlled trials with large sample sizes and standardized measurement criteria are still lacking. Recent short-term follow-up studies showed that the recurrence rate of symptoms increases with the prolongation of operative time after treatment, thus requiring repeated treatment. Therefore, further data collection is still needed to investigate the effectiveness and recurrence rate of laser technology for VLS [24].
A retrospective study comparing different injection approaches of 5-aminolevulinic acid in patients with non-melanoma skin cancer
Published in Journal of Dermatological Treatment, 2022
Weihong Zhao, Jun Wang, Ying Zhang, Baoyong Zheng
The study reported a 13% recurrence rate during follow-up. The results of the study agreed with a prospective study (1) but the recurrence rate of the current study was fewer than the retrospective cohort study for methyl aminolevulinate cream (6). The possible reason for such contradictory results is that the cream is limited for penetration of 5-aminolevulinic acid through intracellular diffusion only (22). However, the recurrence rate during follow-up was higher than the retrospective cohort study for plesiotherapy for non-melanoma skin cancer (23). The possible reason for such contradictory results is that the study for plesiotherapy was performed with a small sample size of nine patients only. The study justified intralesional injection of 5-aminolevulinic acid.
Topical 5-aminolevulinic acid photodynamic therapy for intra anal-rectal warts
Published in Journal of Dermatological Treatment, 2020
Wei Zhao, Xiao-Feng Shan, Chang-Liang Wang, Xin-Zhou Liu, Zhen Li, Hai-Lu Xiao, Zhong-Wei Li, Rong-Tao Zheng, Jian-Ling Hou, Hong-Qing Tian
A solution of 20% 5-aminolevulinic acid (Fudan Zhangjiang Bio-Pharm Co., Ltd., Shanghai, China) dissolved in 0.9% NaCl was prepared. A 5 cm long, thin cotton swab, soaked in this solution, was gently inserted into the intra anal–rectal to interact with the intra anal-rectal lesions after anal stretch by anal dilator. Subsequently, the preservative film was used to occlude the perianal area for 3 h. For warts outside of those areas, we treated with our traditional red light PDT. The lesions were irradiated with light of wavelength 635 nm, emitted by a LED light energy (Wuhan Yage Optic and Electronic Technique Co., Ltd.). Different from traditional optical fiber treatment methods, this kind of light energy is specially aimed at the intra anal–rectal warts. The illuminant was gently inserted into the anal–rectal and the lesion was treated for 15 min at 20–40 mW/cm2 (Figure 1). Patients were treated once every week for 4 weeks. Patients were asked to assess pain using the VAS, from 0 (no sense) to 10 points (worst imaginable pain) during and after the treatment, respectively, and stratified VAS pain scores into our levels of no pain, mild, moderate and severe. If one patient cannot stand the pain during the treatment, we would suspend and continue to irradiate after the patient getting right. Topical anodyne would be applied next therapy for who could not tolerate the pain. Any adverse events experienced by the patients during and after the period were recorded. The treatment response was evaluated one week after each treatment to determine whether or not the lesions were completely cleared. The patients’ condition described as cured (100% of the condyloma lesions disappeared and no recurrent lesions), partial response (more than 50% of the warts clearance) or nonresponse (less than 50% of the lesions clearance or increased). The recurrence of completely response patients were observed at the end of 12 weeks post-therapy. SPSS 17.0 software was used to analyze all data in this study.
Related Knowledge Centers
- NON-Proteinogenic Amino Acids
- Porphyrin
- Heme
- Chlorophyll
- Photodynamic Therapy
- Barrett'S Esophagus
- Brain Tumor
- Neurosurgery
- Progression-Free Survival
- Glioma