Alkaptonuria (AKU) community

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Alkaptonuria (AKU) community news

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    A Patient’s Journey- Living with alkaptonuria
    News, published about 1 month ago

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    Simon Laxon, who was diagnosed with a rare genetic disorder, alkaptonuria, soon after birth, describes his journey in understanding the condition and finding hope for a cure. 

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    Alkaptonuria: Treasure your exceptions
    News, published 2 months ago

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    Full text article via Springer publishers: This editorial is part of a review about the scientific heritage of rare human disorders and the genetic dissection of biochemical pathways.Alkaptonuria and other disorders of aromatic amino acid metabolism have a special place in this legacy. 

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    Nuclear medicine techniques in the assessment of alkaptonuria.
    News, published 3 months ago

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    We believe that, currently, nuclear medicine techniques can provide useful information, which can be incorporated into disease severity scores for alkaptonuria. Once the biological basis for alkaptonuria is better understood, it is feasible that..

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    Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).
    News, published 4 months ago

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    Abstract

    (Full text is available at http://www.manu.edu.mk/prilozi)

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    An unusual dark pigmentation on the tympanic membrane.
    News, published 4 months ago

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    Conclusion: Clinicians should consider alkaptonuria in the differential diagnosis of patients with abnormal tympanic membrane pigmentation and hearing loss.

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    Perioperative management of patient with alkaptonuria and associated multiple comorbidities
    News, published 4 months ago

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    Full text article

    We want to highlight the need of thorough preoperative evaluation in patients of alkaptonuria, as it is associated with multiple comorbidities. The systemic involvement should determine the anesthetic plan. Caution should be exercised during positioning to prevent injury to the joints and the spine.

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    A quantitative assessment of alkaptonuria : Testing the reliability of two disease severity scoring systems.
    News, published 5 months ago

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    Alkaptonuria (AKU) is due to excessive homogentisic acid accumulation in body fluids due to lack of enzyme homogentisate dioxygenase leading in turn to varied clinical manifestations mainly by a process of conversion of HGA to a..

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    Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria
    News, published 5 months ago

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    The objective of this research is to explore reported age related differences in toxicity of nitisinone and its pharmacokinetic underpinnings and to develop an optimal therapeutic requirement for a targeted population of presymptomatic patients...

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    Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR
    News, published 5 months ago

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    In pilot studies of the usefulness of solid state nuclear magnetic resonance spectroscopy in characterizing chemical and molecular structural effects of alkaptonuria on connective tissue, we have obtained (13) C spectra from articular cartilage...

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    An update on molecular genetics of Alkaptonuria (AKU)
    News, published 5 months ago

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    Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis. The defect is caused by mutations in...