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]

• Exertional Chest Pain

  A 69-year-old man presented with shortness of breath and exertional chest pain. [ncbi.nlm.nih.gov]

• Chest Pain

  A 69-year-old man presented with shortness of breath and exertional chest pain. [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]

• HLA-DR7

  A slightly raised occurrence of HLA-DR7 has been found. [ 6 ] The disease loosens the cross-linking between collagen fibres and much of the pathology results from this. [ 7 ] Deposits of pigmented polymers of homogentisic acid occur in many tissues, including [patient.info]

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]

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]

[…] 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]

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]

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]

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

A potential disease modifying drug, nitisinone, inhibits 4-hydroxy-phenyl-pyruvate-dioxygenase and decreases formation of HGA and could prevent or slow the progression of disease in AKU. [ncbi.nlm.nih.gov]

We feel very lucky that our son has been diagnosed at a young age, and to know that he was being given a drug at the right time, that would prevent the onset of such a horrible disease means the world to us. [globalgenes.org]

Prevention It is not possible to identify heterozygous carriers yet and prenatal screening is not available. [patient.info]