protoporphyrinogen oxidase deficiency

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PPO

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英文文献

  • Porphyria and its neurologic manifestations.
  • Tracy JA1, Dyck PJ2.Author information 1Mayo Clinic, Department of Neurology, Rochester, MN, USA.2Mayo Clinic, Department of Neurology, Rochester, MN, USA. Electronic address: dyck.pjames@mayo.edu.AbstractPorphyrias are rare disorders resulting from a defect in the heme biosynthetic pathway. They can produce significant disease of both the peripheral and central nervous systems, in addition to other organ systems, with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria as the subtypes associated with neurologic manifestations. The presence of a motor-predominant peripheral neuropathy (axonal predominant), accompanied by gastrointestinal distress and neuropsychiatric manifestations, should be a strong clue to the diagnosis of porphyria. Clinical confirmation can be made through evaluation of urine porphyrins during an exacerbation of disease. While hematin is helpful for acute treatment, long-term effective management requires avoidance of overstimulation of the cytochrome P450 pathway, as well as other risk factor control.
  • Handbook of clinical neurology.Handb Clin Neurol.2014;120:839-49. doi: 10.1016/B978-0-7020-4087-0.00056-5.
  • Porphyrias are rare disorders resulting from a defect in the heme biosynthetic pathway. They can produce significant disease of both the peripheral and central nervous systems, in addition to other organ systems, with acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria a
  • PMID 24365356
  • Variegate porphyria complicated by systemic AA amyloidosis: a case report.
  • Tsuchiya Y1, Hoshino J, Suwabe T, Sumida K, Hiramatsu R, Mise K, Hasegawa E, Yamanouchi M, Hayami N, Sawa N, Arizono K, Hara S, Takaichi K, Fujii T, Ubara Y.Author information 1Nephrology Center, Toranomon Hospital , Tokyo , Japan .AbstractWe report a Japanese woman with variegate porphyria accompanied by amyloid A (AA) amyloidosis. Arthropathy involving multiple joints occurred at 35 years old and persisted. C-reactive protein was 4.0 mg/dL, but rheumatoid factor was negative. Radiographs did not reveal any loss or narrowing of the joint spaces. Two years later, blister formation after sun exposure and reddish urine were first noted. At the age of 45 years, she developed abdominal pain, nausea, vomiting and seizures. After administration of phenobarbital, reddish urine was noted and muscular weakness progressed to atonic quadraparesis. Porphyria attack was diagnosed from high urinary levels of ∂ aminolevulinic acid and porphobilinogen. At the age of 47 years, hemodialysis was started. At the age of 49 years, progression of her gastrointestinal event resulted in death. Autopsy showed massive deposits of AA amyloidosis in various organs, including the kidneys and digestive tract. Thus, amyloid deposition may have contributed to both end-stage renal failure and her gastrointestinal symptoms. This is the first report about the coexistence of porphyria and AA amyloidosis. Chronic inflammation related to this patient's seronegative arthropathy, although atypical for porphyria, might have contributed to the development of AA amyloidosis.
  • Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.Amyloid.2013 Dec;20(4):272-4. doi: 10.3109/13506129.2013.837390. Epub 2013 Oct 16.
  • We report a Japanese woman with variegate porphyria accompanied by amyloid A (AA) amyloidosis. Arthropathy involving multiple joints occurred at 35 years old and persisted. C-reactive protein was 4.0 mg/dL, but rheumatoid factor was negative. Radiographs did not reveal any loss or narrowing of the j
  • PMID 24131077
  • The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria.
  • Kim DH1, Hino R, Adachi Y, Kobori A, Taketani S.Author information 1Department of Biotechnology; and Department of Bio-molecular Engineering, Kyoto Institute of Technology, Kyoto 606-8585, Japan.AbstractHereditary coproporphyria (HCP) is an autosomal dominant-inherited disease of haem biosynthesis caused by partial deficiency of the enzyme coproporphyrinogen oxidase (CPOX). Patients with HCP show <50% of normal activity and those with the rare autosomal recessive harderoporphyria accumulate harderoporphyrinogen, an intermediate porphyrin of the CPOX reaction. To clarify the relationship of the low enzyme activity with these diseases, we expressed mutant CPOX carrying His-tag from these porphyria patients and co-expressed mutant CPOX carrying His-tag and normal CPOX carrying HA-tag in a tandem fashion in Escherichia coli. Purification of the His-tag-containing enzyme revealed that the His-enzyme forms a heterodimer in association with the HA-enzyme, and analysis using a cross-link reagent confirmed that the enzyme is a dimer (∼70 kDa). Then, we expressed homo- and heterodimers composed of the wild-type (wt) and engineered mutants of the enzyme or mutants from HCP patients. The monomer form of mutated CPOX did not show any activity and homodimeric enzymes derived from HCP mutant showed low activity (<20% of the control). Some mutations of amino acids 401-404 were associated with marked accumulation of harderoporphyrinogen, with a decrease in the production of protoporphyrinogen, whereas K404E derived from patients with harderoporphyria produced less harderoporphyrinogen. The heterodimers with wt and mutated subunits from HCP patients showed low protoporphyrinogen producing activity. These results show that the substitution of amino acids from R401 to K404 results in extremely low enzyme activity with either mutant homodimer or heterodimers containing normal and mutated subunits and can be linked to HCP disease.
  • Journal of biochemistry.J Biochem.2013 Dec;154(6):551-9. doi: 10.1093/jb/mvt086. Epub 2013 Sep 26.
  • Hereditary coproporphyria (HCP) is an autosomal dominant-inherited disease of haem biosynthesis caused by partial deficiency of the enzyme coproporphyrinogen oxidase (CPOX). Patients with HCP show <50% of normal activity and those with the rare autosomal recessive harderoporphyria accumulate hard
  • PMID 24078084

和文文献

  • 新規ピラゾール化合物の植物に対する Peroxidizing 作用
  • Peroxidizing Phytotoxic Activity of Pyrazoles

関連リンク

Protoporphyrinogen oxidase deficiency symptoms, causes, diagnosis, and treatment information for Protoporphyrinogen oxidase deficiency (Variegate porphyria) with alternative diagnoses, full-text book chapters, misdiagnosis ... ...
#176200 Porphyria, variegate (Variegate porphyria; VP) (Porphyria, South African type) (Protoporphyrinogen oxidase deficiency) (PPOX deficiency) [Mixed prophyria] ポルフィリン症, 異型 (VP) (南アフリカ型ポルフィリン症)

関連画像

1sez » Protoporphyrinogen oxidase Protoporphyrinogen OxidaseProtoporphyrinogen oxidaseBalance en maíz: Maíz tratadoPorphyrie Variegata; Déficit en Protoporphyrinogen Oxidase


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先読みPPO
関連記事deficiency」「oxidase」「protoporphyrinogen oxidase」「protoporphyrinogen

PPO」

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deficiency」

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  • n.
  • 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
  • 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

PrepTutorEJDIC   license prepejdic

「〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥」


oxidase」

  [★] オキシダーゼ

WordNet   license wordnet

「any of the enzymes that catalyze biological oxidation」


protoporphyrinogen oxidase」

  [★] プロトポルフィリノーゲンオキシダーゼ PPO


protoporphyrinogen」

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プロト・ルフィリノーゲン




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