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An Introduction to the Ethnopharmacology of Wild Plants
Published in Mahendra Rai, Shandesh Bhattarai, Chistiane M. Feitosa, Ethnopharmacology of Wild Plants, 2021
Shandesh Bhattarai, Christiane Mendes Feitosa, Mahendra Rai
Some of the approved drugs from terrestrial plants are Apomorphine hydrochloride, to treat Parkinson’s disease, isolated from poppy (Papaver somniferum) (Deleu et al. 2004), followed by Tiotropium bromide for the treatment of bronchospasm associated with chronic obstructive pulmonary disease, from Atropa belladonna and related tropane alkaloids from other solanaceous plants (Koumis and Samuel 2005). Nitisinone, a new class of herbicides from the bottlebrush plant (Callistemon citrinus) (Hall et al. 2001), is used for the treatment of hereditary tyrosinaemia type 1 (HT-1) (Mitchell et al. 2001). Galantamine obtained from Galanthus nivalis has been used traditionally in Bulgaria and Turkey for neurological conditions (Howes et al. 2003, Heinrich and Teoh 2004), and for the treatment of Alzheimer’s disease (Balunas and Kinghorn 2005).
Alkaptonuria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Therapy with nitisinone represents an advance toward rational therapy because the compound inhibits the enzyme directly before homogentisic acid in the pathway of tyrosine catabolism (see Figure 14.1). Extensive experience in hepatorenal tyrosinemia (Chapter 22) indicated its surprising safety. Toxicity would be the reproduction of symptoms of oculocutaneous tyrosinemia (Chapter 21) and photophobia and corneal crystals have been observed in infants with hepatorenal tyrosinemia treated with NTBC [13]. In experience with two adults [14] in whom diet was not modified, 0.7 to 1.4 mg qd reduced urinary homogentisic acid excretion to 0.13 and 1.4 g per day. Plasma levels of tyrosine rose to 715 and 1288 mmol/L. There were no ocular symptoms, and slit-lamp examination was normal.
Oculocutaneous albinism
Published in Electra Nicolaidou, Clio Dessinioti, Andreas D. Katsambas, Hypopigmentation, 2019
Mira Kadurina, Anastasiya A. Chokoeva, Torello Lotti
There is no curative treatment for albinism and associated conditions. The most essential part of the patients’ education is to maximize light (ultraviolet radiation A and B) protection with high sun protection factors, protective clothing, and sunglasses. Collaboration with an experienced ophthalmologist is needed for optimal management of the visual problems.12 Dermatologic follow-up is crucial for the timely diagnosis and management of cutaneous malignancies. Patients should be educated in self-skin examination with the melanoma ABCDE rules.1 Recent clinical trials established that nitisinone (an inhibitor of 4-hydroxyphenylpyruvate dioxygenase) can trigger tyrosine accumulation in blood, suggesting that it could improve pigmentation in OCA1B patients.14 Potential gene therapy includes adeno-associated viruses’ vectors, introducing a functional copy of the tyrosinase gene in OCA1 and OA1 patients, but clinical trials are still missing.1
The potential of nitisinone for the treatment of alkaptonuria
Published in Expert Opinion on Orphan Drugs, 2019
Whilst this paper is interested in the potential of nitisinone in AKU, it is another disorder of tyrosine metabolism where nitisinone would initially prove its value as a therapy. AKU is not shown to reduce longevity, however hereditary tyrosinemia type 1 (HT-1)(OMIM #276700) is a much more life-limiting disorder which if left untreated can result in hepatocellular carcinoma and other severe complications leading to death at a young age [42]. Prior to the discovery and availability of nitisinone, it was liver transplantation that was the go to therapy for HT-1. In the HT-1 pediatric population(s), the administration of nitisinone in combination with a protein-restricted diet, to individuals under 2 months of age sees the 4-year survival rate increase to 94%, compared to protein controlled diet alone at 29% [43].
Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts
Published in Fetal and Pediatric Pathology, 2020
Muhammad Yasir Zahoor, Huma Arshad Cheema, Sadaqat Ijaz, Zafar Fayyaz
A missense mutation c.974C > T (p.T325M) was found in one family, PKTT1F4. A two-month-old baby boy presented in hospital with complaints of abdominal distension and scrotal swelling for four weeks. His parents were married cousins, with consanguinity lasting for three generations in the cohort. The couple had three other healthy male children and a history of two miscarriages (Fig. 1). The patient’s clinical characteristics are shown in Table 1. Treatment with Nitisinone was initiated promptly, but the patient died at the age of 2.5 years. Genetic analysis of FAH found that both parents carried the c.974C > T mutation in heterozygous form.