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- 1. 遺伝コプロポルフィリン症 hereditary coproporphyria
- 2. ポルフィリン症：概要 porphyrias an overview
- 3. 先天性骨髄性ポルフィリン症 congenital erythropoietic porphyria
- 4. 先天性および後天性鉄芽球性貧血の原因 causes of congenital and acquired sideroblastic anemias
- 5. 晩発性皮膚ポルフィリン症および肝骨髄性ポルフィリン症 porphyria cutanea tarda and hepatoerythropoietic porphyria
- 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: email@example.com.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
- 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
- Kidney transplantation in hereditary coproporphyria using tacrolimus and mycophenolate mofetil: a case report.
- Telkes G1, Pusztai A, Földes K, Langer RM.Author information 1Department of Transplantation and Surgery, Semmelweis University, Budapest, Hungary. Electronic address: firstname.lastname@example.org.AbstractBACKGROUND: The porphyrias are a group of disorders of the heme biosynthesis pathway that may present with acute life-threatening attacks, commonly exacerbated by a wide variety of medications. Many newer immunosuppressive medications, which are in use following kidney transplantation, have not been fully explored in acute porphyrias.
- Transplantation proceedings.Transplant Proc.2013 Dec;45(10):3703-4. doi: 10.1016/j.transproceed.2013.10.008.
- BACKGROUND: The porphyrias are a group of disorders of the heme biosynthesis pathway that may present with acute life-threatening attacks, commonly exacerbated by a wide variety of medications. Many newer immunosuppressive medications, which are in use following kidney transplantation, have not been
- PMID 24315002
- Induction of coproporphyrinogen oxidase in Chlamydomonas chloroplasts occurs via transcriptional regulation of Cpx1 mediated by copper-response elements and increased translation from a copper-deficiency-specific form of the transcript
- QUINN J. M.
- J.Biol.Chem. 274, 14444-14454, 1999
- NAID 80011067147
- Coproporphyrinogen oxidase deficiency symptoms, causes, diagnosis, and treatment information for Coproporphyrinogen oxidase deficiency (Porphyria, hereditary coproporphyria) with alternative diagnoses, full-text book chapters ... ...
- Coproporphyrinogen oxidase deficiency explanation. Information about Coproporphyrinogen oxidase deficiency in Free online English dictionary. What is Coproporphyrinogen oxidase deficiency? Meaning of Coproporphyrinogen ...
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve