A metabolic cause of spinal deformity

Effelsberg, Nora M.; Hügle, Thomas; Walker, Ulrich A.

doi:10.1016/j.metabol.2009.06.034

Cited by 14 publications

(10 citation statements)

References 17 publications

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“…This efficiency is decreased with aging, which eventually leads to the deposition of HGA throughout the body, particularly in the fibrous tissues and cartilages. 4,5,19,34,38,40,59 With deposition of this material, the color of cutaneous tissues turns to blue-black as progressive arthropathy occurs, and urine darkens with exposure to air. 25,46,57,59 At this stage, which is usually during the 4th decade of life, the term ochronosis is used.…”

Section: Discussionmentioning

confidence: 99%

“…25,46,57,59 At this stage, which is usually during the 4th decade of life, the term ochronosis is used. 4,5,19,34,38,40 This is quite different from AS, wherein the symptoms start in late adolescence and early adulthood, and consist of inflammatory spinal pain and stiffness, sacroiliac pain, and decreasing range of spinal motion entailing characteristic postural abnormalities. 7,64 It also differs from diffuse idiopathic skeletal hyperostosis (DISH), because stiffness occurs late, usually in the elderly.…”

Section: Discussionmentioning

confidence: 99%

“…Musculoskeletal involvement by alkaptonuria is likely to be noted first in the spine. 4,5,19,34,38,40 Spinal involvement, which in particular occurs at the lumbar and thoracic regions, is started with disc degeneration resulting from the redeposit of HGA in the disc space.…”

Section: Discussionmentioning

confidence: 99%

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Symptomatic pseudarthrosis in ochronotic spine: case report

Rahimizadeh

Soufiani

Hassani

2017

SPI

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In this study the authors report the first example of spinal pseudarthrosis in a patient with ochronosis, and they describe the application of posterior-only 360° surgery as an alternative approach to combined anterior-posterior surgery in the management of pseudarthrosis of an ankylosed spine, regardless of its etiology. Spinal involvement in ochronosis produces loss of flexibility and ankylosis of thoracic and lumbar segments. Pseudarthrosis is a serious complication of the diseases that present with ankylosis of the spine. However, its occurrence in ochronotic spine has not been reported previously. Evaluation of progressive paraparesis in a 68-year-old man with ochronosis revealed pseudarthrosis at the T11–12 level. Circumferential dural sac decompression, debridement of the disc space, interbody fusion, and screw-rod fixation were all done via a posterior-only approach. Postoperatively the patient exhibited a marked recovery in terms of pain and neurological status. At the 3-month follow-up, he was able to walk independently. Ochronosis should be included in the etiology of pseudarthrosis. With aggravation of back pain and the appearance of neurological deficits in an already stable patient with any ankylosing disease, pseudarthrosis should be suspected. Furthermore, single-stage, 360°, posterior-only surgery may obviate the need for single-stage or staged anterior-posterior surgical intervention in patients with pseudarthrosis of the thoracic and lumbar spine.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Symptomatic pseudarthrosis in ochronotic spine: case report

Rahimizadeh

Soufiani

Hassani

2017

SPI

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“…Tyrosine is an essential amino acid that readily crosses the blood-brain barrier, where it acts as a precursor for the neurotransmitters dopamine, norepinephrine, and epinephrine [34,35]. Phenylalanine, the precursor of tyrosine, is also a precursor of catecholamines (tyramine, dopamine, epinephrine, and norepinephrine) [36,37].…”

Section: Long-term Microwave Exposure Induced Energy Metabolism Distumentioning

confidence: 99%

Application of 1H-NMR-based metabolomics for detecting injury induced by long-term microwave exposure in Wistar rats’ urine

Wang

Peng

et al. 2012

Anal Bioanal Chem

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There has been growing public concern regarding exposure to microwave fields as a potential human health hazard. This study aimed to identify sensitive biochemical indexes for the detection of injury induced by microwave exposure. Male Wistar rats were exposed to microwaves for 6 min per day, 5 days per week over a period of 1 month at an average power density of 5 mW/cm(2) (specific absorption rate of 2.1 W/kg). Urine specimens were collected over 24 h in metabolic cages at 7 days, 21 days, 2 months, and 6 months after exposure. (1)H NMR spectroscopy data were analyzed using multivariate statistical techniques. Urine metabolic profiles of rats after long-term microwave exposure were significantly differentiated from those of sham-treated controls using principal component analysis or partial least squares discriminant analysis. Significant differences in low molecular weight metabolites (acetate, succinate, citrate, ketoglutarate, glucose, taurine, phenylalanine, tyrosine, and hippurate) were identified in the 5 mW/cm(2) microwave exposure group compared with the sham-treated controls at 7 days, 21 days, and 2 months. Metabolites returned to normal levels by 6 months after exposure. These data indicated that these metabolites were related to the perturbations of energy metabolism particularly in the tricarboxylic acid cycle, and the metabolism of amino acids, monoamines, and choline in urine represent potential indexes for the detection of injury induced by long-term microwave exposure.

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“…The intervertebral discs are the most frequently involved, where it results in calcification and intervertebral disc space narrowing. Severe spinal involvement can resemble ankylosing spondylitis due to formation of bony bridges between vertebral bodies, rigid spine, and morning stiffness (4,5). The physician should also consider diffuse idiopathic skeletal hyperostosis (DISH) as a differential diagnosis.…”

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confidence: 99%

Ochronotic Spondyloarthropathy

Can¹,

Çelik²

2014

Turk J Phys Med Rehab

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Ochronosis is a rare autosomal recessive metabolic disorder that is caused by a lack of the homogentisic acid (HGA) oxidase enzyme (1). The deficiency results in the accumulation of HGA within connective tissues, such as hyaline cartilages, intervertebral discs, tendons, skin, and sclera (2). The other common clinical manifestations are degeneration of intervertebral discs and large joints, dark urine on addition of alkali, renal stones, and cardiac involvement (1).There is no effective specific treatment. The main objective is to prevent ochronotic arthropathy that may require joint replacements (3,4). The patients must be followed up for possible involvement of the renal and cardiovascular systems (4). At present, the only treatment available is symptomatic. Rest, analgesics, exercise, and physiotherapy can help relieve symptoms of arthropathy (1).A 50-year-old man was referred to our clinic with pain in the left knee for 2 years and intermittent low back pain for 10 years. The pain was exacerbated by movement and relieved by resting. He denied morning stiffness. He noticed auricular pigmentation of almost 20 years in duration and urinary darkening. His brother also suffered from auricular pigmentation and chronic low back pain. On physical examination, we found blue-gray pigmentation on the ears. The spine flexion was slightly restricted and painful. The knees had a normal range of motion with crepitus. The neurologic examination was normal. Clinical examination of the cardiovascular and respiratory systems revealed no abnormality. Complete blood cell count, C-reactive protein (CRP), serum glucose, calcium, phosphorus, urea, creatinine, ferritin, liver and renal function tests, parathyroid hormone, thyroid-stimulating hormone, and free T4 levels were all within normal limits. Erythrocyte sedimentation rate (ESR) was slightly increased (36 mm/h). Urine analysis was found to be normal. Radiograph of the lumbar spine showed multilevel intervertebral disc calcifications, narrowed intervertebral spaces, vertebral body squaring, and marginal osteophytes (Figure 1). Radiograph of the left knee showed medial tibiofemoral joint space narrowing and osteophyte of the medial tibial plateau. An echocardiogram revealed no heart abnormalities. An abdominal ultrasound revealed no kidney stones or visceral abnormalities. Based on these findings, we diagnosed the patient as having ochronosis. The diagnosis was confirmed by high 24-hour urinary levels of HGA (670.3 mmol/mmol of creatinine; N<2 mmol/mmol of creatinine). We educated the patient about proper body alignment and treated him with analgesics, exercises, and electrotherapy.Ochronotic arthropathy is the most common musculoskeletal involvement of ochronosis. It is age-associated progressive degenerative arthropathy. It develops typically after 40 years old and results from HGA accumulation in the cartilage. Subsequently, the cartilage turns dark and loses its elasticity. The intervertebral discs are the most frequently involved, where it results in calcification and inte...

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A metabolic cause of spinal deformity

Cited by 14 publications

References 17 publications

Symptomatic pseudarthrosis in ochronotic spine: case report

Symptomatic pseudarthrosis in ochronotic spine: case report

Application of 1H-NMR-based metabolomics for detecting injury induced by long-term microwave exposure in Wistar rats’ urine

Ochronotic Spondyloarthropathy

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