Symptoma

Alkaptonuria

Black Urine Disease

Involvement of the spine is termed "ochronotic spondyloarthropathy," of which myelopathy is an uncommon presentation. We present the case of a 57-year-old man with alkaptonuria-associated myelopathy, who underwent surgical decompression. [ncbi.nlm.nih.gov]

  • Gagging

    We measured cartilage concentrations (normalized to dry weight) of racemized aspartate, GAG, COMP and deamidated COMP (D-COMP). Unpaired AKU, OA and non-OA samples were compared by non-parametric Mann-Whitney U test. [ncbi.nlm.nih.gov]

  • Papule

    Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. [ncbi.nlm.nih.gov]

    Dermatological examination revealed bilaterally symmetrical nontender, bluish papules with pitting, and crateriform plaques on palms [Figure 1]. Few hyperpigmented plaques were noted on the dorsum of hands and feet. [pigmentinternational.com]

  • Osteopenia

    Other systemic features include stones (renal, prostatic, salivary, gall bladder), renal damage/failure, osteopenia/fractures, ruptures of tendons/muscle/ligaments, respiratory compromise, hearing loss and aortic valve disease. [ncbi.nlm.nih.gov]

    Other systemic features include: Stones ( renal, prostatic, salivary, gall bladder), osteopenia/ fractures, ruptures of tendons/ muscle/ ligaments, respiratory compromise and hearing loss. [pathopedia-india.com]

  • Neurogenic Claudication

    Neurogenic claudication resulting from focal hypertrophy of the ligamentum flavum in the lumbar spine due to ochronotic deposits has only been previously reported once in the literature. [ncbi.nlm.nih.gov]

  • Calcified Aortic Valve

    Operative findings included ochronosis of a severely calcified aortic valve and the aortic intima, and bioprosthetic AVR and CABG were successfully performed. [ncbi.nlm.nih.gov]

  • Vitamin C Decreased

    High-dose vitamin C decreases urinary benzoquinone acetic acid, a derivative of HGA, but has no effect on HGA excretion [ Wolff et al 1989 ]. [ncbi.nlm.nih.gov]

    High-dose vitamin C decreases urinary benzoquinone acetic acid but has no effect on HGA excretion, 8 and no credible studies have shown that treatment with vitamin C is clinically effective. 3 In our patients, neither vitamin C supplementation nor protein [content.nejm.org]

  • Tyrosine Increased

    Serum tyrosine increased from normal adult reference interval to a mean   SD of 594   184 µmol /L at year-two monitoring with an increased urinary excretion from 103   81 µmol /24 h at baseline to 1071   726 µmol /24 h two years from therapy. [ncbi.nlm.nih.gov]

Although no disease-modifying treatment currently exists for alkaptonuria, the use of symptomatic treatments and, particularly, surgical decompression is recommended to address myelopathy if it develops. 4. [ncbi.nlm.nih.gov]

[…] in the treatment of alkaptonuria. [en.wikipedia.org]

Cardiac complications are often life-threating and may worsen the prognosis. The documents contained in this web site are presented for information purposes only. [orpha.net]

Testing for carriers with a tyrosine load may give results but as some have 50% of normal enzyme activity it is unsatisfactory.4 It is common to find a negative family history of the condition Prognosis - Alkaptonuria Alkaptonuria does not appear to affect [checkorphan.org]

Prognosis [ 5 ] Life expectancy is normal but there is considerable morbidity, with significant pain beginning as early as the age of 30. [patient.info]

Ochronosis is a model of arthropathy with known etiologic factors. Over time, AKU, the genetically determined metabolic defect, leads to the accumulation of pigment and the development of this crippling condition. [ncbi.nlm.nih.gov]

Etiology Patients are homozygous or compound heterozygous for loss-of-function mutations (more than 120 different variants described worldwide) in the HGD gene (3q), encoding homogentisate 1,2-dioxygenase, an enzyme of the phenylalanine and tyrosine catabolic [orpha.net]

(Etiology) Alkaptonuria is a rare disorder that is caused by mutations in the HGD gene. It is an autosomal recessive condition. Normally, the HGD gene codes for the instructions to make the enzyme homogentisate oxidase. [dovemed.com]

Homogentisic acid autoxidation and oxygen radical generation: implications for the etiology of alkaptonuric arthritis. Free Radic Biol Med. 1987; 3: 241-50. [23] Milch RA. [degruyter.com]

Mere identification, however, does not always lead to full engagement for epidemiological research purposes or targeting treatment since further barriers exist. [ncbi.nlm.nih.gov]

Summary Epidemiology Worldwide birth prevalence is estimated at around 1/111,000-1/1,000,000. [orpha.net]

Deficiency of Homogentistic Acid Oxidase » accumulation of Homogentistic Acid Memory aid “ONC HOG” Characterised by Homogentistic acid in urine Dark pigmentation of connective tissues - Ochronosis Calcification of hyaline & fibrocartilage - Chondrocalcinosis Epidemiology [orthofracs.com]

Pigmentation of the aortic and mitral valve cusps and valve rings is a result of intracellular and extracellular pigment deposition and is associated with calcification and clinically significant aortic stenosis. [ 8 ] Epidemiology [ 9 ] It occurs in [patient.info]

The differential diagnosis of a T1-hyperintense, T2-hypointense disc on magnetic resonance imaging is discussed, with emphasis on the pathophysiology of alkaptonuria. A single patient is reported. [ncbi.nlm.nih.gov]

Early-stage treatment of AKU patients with nitisinone could prevent the development of associated joint arthropathies. [ncbi.nlm.nih.gov]

They found that if the drug is administered throughout a patient's lifespan it has the potential to completely prevent joint disease. [medicalxpress.com]

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