Publications by authors named "L Ranganath"
Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolised homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic pigmentation, derived from HGA, has previously been reported and described in large joints obtained from arthroplasty surgeries, which typically have advanced disease.
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- The study investigates the effects of dietetic intervention on protein nutrition disorders in patients with alkaptonuria (AKU), specifically focusing on those undergoing nitisinone therapy versus those who are not.
- It involved 201 AKU patients and measured various health metrics, showing that diet management led to improved body composition and reduced biochemical markers of protein breakdown.
- Findings indicate that active dietary support helps maintain lean body mass and reduces the occurrence of corneal keratopathy, highlighting the importance of tailored dietary interventions in AKU treatment.
Article Synopsis
- The original publication outlines key findings and ideas on a specific topic or research area.
- It discusses the methodology used to gather data and analyze results, ensuring transparency and reproducibility.
- The conclusion emphasizes the implications of the findings and suggests areas for future research or application.
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty.
Mol Genet Metab Rep
September 2024
Article Synopsis
- Increased levels of homogentisic acid (HGA) in alkaptonuria (AKU) lead to severe arthritis, and while nitisinone reduces HGA production, its impact on joint replacement (arthroplasty) rates was studied in 237 AKU patients.
- In the SONIA 2 study, patients were divided into groups based on their existing joint replacements and nitisinone use, revealing significant differences in new joint replacement probabilities across these subgroups.
- The findings indicated that the frequency and timing of joint replacements occurred earlier in patients who had joint replacements before starting nitisinone, suggesting that nitisinone did not influence the incidence of arthroplasty.
Article Synopsis
- Alterations in the activity of enzymes involved in phenylalanine-tyrosine metabolism lead to incomplete breakdown of metabolites, causing increased levels of homogentisic acid (HGA), particularly in the context of alkaptonuria (AKU).
- The study explored the presence of HGA and other metabolites in biofluids and tissues of AKU mice, both treated and untreated with nitisinone, revealing that HGA levels are significantly reduced in bile and that biliary excretion contributes to metabolite distribution.
- A notable finding was that AKU mice excrete approximately 3.8 times more HGA in urine compared to human patients, which may explain the lesser extent of tissue damage (ochronosis