Nitisinone causes acquired tyrosinosis in alkaptonuria
نویسندگان
چکیده
منابع مشابه
Clinical development of nitisinone for alkaptonuria (developakure) - a rare disease clinical trials design
Alkaptonuria (AKU) is an orphan inherited homogentisate dioxygenase enzyme deficiency resulting in accumulation of homogentisic acid (HGA). HGA is converted to a black pigment polymer known as ochronosis that causes tissue damage affecting many tissues including joints and heart, with significant poor quality of life. The DevelopAKUre project is a Europe-wide collaboration to study the efficacy...
متن کاملAlkaptonuria.
Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...
متن کاملSpontaneous tendon ruptures in alkaptonuria.
Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been reported. Three patients are described with four spontaneous ruptures of either the patellar tendon or tendo Achillis as the first symptom of alk...
متن کاملTyrosinosis. A study of 6 cases.
The syndrome to be described includes liver cirrhosis, renal tubular defects with vitamin Dresistant rickets, and abnormal tyrosine metabolism with raised levels of the serum tyrosine and an increased excretion of tyrosine and its metabolites in the urine (tyrosyluria). The syndrome has been described under several headings, reflecting the many unsolved problems of aetiology and pathogenesis. T...
متن کاملAlkaptonuria in a middle-aged female
Background: Alkaptonuria (AKU) or ochronosis is a rare progressive degenerative arthropathy that results from deficiency of enzyme homogentisate 1,2 dioxygenase (HGD). The features include arthritis of the spine and in larger peripheral joints, with chondrocalcinosis. In this paper, we present a case of alkaptonuria in a 54 year old woman in Tehran, Iran. Case Presentation: A 54 year old woman ...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2020
ISSN: 0141-8955,1573-2665
DOI: 10.1002/jimd.12229