P-HYDROXYPHENYLPYRUVATE DIOXYGENASE (HPPD) is the first committed enzyme involved in the biosynthesis of vitamin E, and is characterized by catalyzing the conversion of p-hydroxyphenyl pyruvate (HPP) to homogentisic acid (HGA). Here, an HPPD gene was cloned from Medicago sativa L. and designated MsHPPD, which was expressed at high levels in alfalfa leaves. PEG 6000 (polyethylene glycol), NaCl, ...

Alkaptonuria (AKU for short) was the first genetic disease ever identified as such, by Dr Archibald Garrod in 1901 in London [1]. It is a rare disease affecting approximately one in 250,000 people, apart from countries such as Slovakia, Jordan and parts of South India where the number is up to 10 times higher [2]. Alkaptonuria is a monogenic disease leading to an enzyme deficiency, causing the ...

Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder characterized by a triad of homogentisic aciduria, arthritis, and ochronosis, affecting only 2–5 in a million individuals.[1] The management of AKU is usually symptomatic. However, surgical intervention necessitates in cases of significant arthritis. Here, we presented a 64‐year‐old female who underwent bilateral tot...

Alkaptonuria is a rare disease of phenylalanine, aromatic amino acids, and tyrosine metabolism. Because of a genetic deficiency of the enzyme homogentisic acid oxidase, an accumulation of homogentisic acid causes ochronotic pigment deposition. The most common clinical manifestations are arthropathy, urinary calculi and discoloration, cutaneous and cartilaginous pigmentation, and cardiac valvula...

The pathways involved in the biosynthesis of the benzoquinone ring of the ubiquinones have not been established. Recognition of the inability of mammals to synthesize aromatic rings de nova has led to the supposition that, in mammals, the benzoquinone ring of the ubiquinones arises from dietary aromatic amino acids. In support of this theory, Bentley et al. (1) administered phenylalanine-U-Cl4 ...

La ocronosis es una enfermedad genética rara del metabolismo de la fenilamina y tirosina en que se produce acumulación ácido homogentísico. este provoca alcaptonuria depósito el tejido conectivo, provocando coloración oscura mismo. En las articulaciones puede provocar artropatía temprana muy invalidante, conocida como ocronótica. Presentamos caso paciente diagnosticada ocronótica rodilla izquie...

The ingestion of large amounts of aromatic amino acids included in diets practically devoid of ascorbic acid results in the urinary excretion of several intermediary metabolites of these substances in both guinea pigs (1, 2) and premature infants (3). The abnormal constituents of the urine following tyrosine ingestion have been identified as p-hydroxyphenylpyruvic acid, p-hydroxyphenyllactic ac...

Overexposure to waterborne manganese (Mn) is linked with cognitive impairment in children and neurochemical abnormalities in other experimental models. In order to characterize the threshold between Mn-exposure and altered neurochemistry, it is important to identify biomarkers that positively correspond with brain Mn-accumulation. The objective of this study was to identify Mn-induced alteratio...

Green medicine, or pharmaceuticals made from plants, has gained widespread interest since they are thought to be more trustworthy and safe than expensive synthetic drugs with side effects. Miliusa species include Saccopetalum tomentosum (S. tomentosum). Plants of S. abundant in tropical subtropical areas, particularly mainland Asia. In examining phytochemical pharmacological features, ten were ...