uroporphyrinogen decarboxylase deficiency

同

UROD

WordNet

1. any of the enzymes that hydrolize the carboxyl group

PrepTutorEJDIC

1. 〈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

UpToDate Contents

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• 1. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Clinical manifestations and diagnosis
• 2. ポルフィリン症：概要 porphyrias an overview
• 3. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Management and prognosis
• 4. 偽ポルフィリン症 pseudoporphyria
• 5. 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

English Journal

• Hepatitis C- and HIV-induced porphyria cutanea tarda.

• Quansah R1, Cooper CJ1, Said S1, Bizet J1, Paez D1, Hernandez GT1.
• The American journal of case reports.Am J Case Rep.2014 Jan 21;15:35-40. doi: 10.12659/AJCR.889955. eCollection 2014.
• PATIENT: Male, 47 FINAL DIAGNOSIS: Porphyria cutanea tarda Symptoms: Chills • cough dry • thumb swellingMEDICATION: - Clinical Procedure: - Specialty: Metabolic Disorders and Diabetics.OBJECTIVE: Challenging differential diagnosis.BACKGROUND: Porphyria cutanea tarda (PCT) is the most common type
• PMID 24470839

• Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.

• Gómez-Abecia S1, Morán-Jiménez MJ, Ruiz-Casares E, Henriques-Gil N, García-Pastor I, Garrido-Astray MC, Enríquez de Salamanca R, Méndez M.
• Gene.Gene.2013 Jun 10;522(1):89-95. doi: 10.1016/j.gene.2013.03.074. Epub 2013 Mar 29.
• Porphyria cutanea tarda (PCT) results from decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. Deficiency in this enzyme results in accumulation of highly carboxylated porphyrins responsible for the disease. PCT usually occurs in adulthood and is characterized by cutaneous phot
• PMID 23545314

• [Case no. 5. Bullous dermatosis].

• Battistella M1.
• Annales de pathologie.Ann Pathol.2013 Jun;33(3):196-201. doi: 10.1016/j.annpat.2013.04.013. Epub 2013 May 27.
• PMID 23790661

Japanese Journal

• <no title>

• 石井 廣文,篠井 格,瀬崎 達雄,長田 高寿,山本 康生,西原 修美,村上 元正
• 医療 36(5), 459-462, 1982
• … The disease is said to be caused by hereditary enzyme deficiency decreased activity of uroporphyrinogen decarboxylase (UD) J and manifested when acquired factors are also present. …
• NAID 130004313102

Related Links

• Immunochemical study of uroporphyrinogen decarboxylase in ...

Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family. Br J Dermatol. 1984 May; 110 (5):613–617. [PubMed] Lim HW, Poh-Fitzpatrick MB. Hepatoerythropoietic porphyria: a variant of childhood-onsetJ Am ...

• Uroporphyrinogen decarboxylase deficiency - RightDiagnosis.com

Uroporphyrinogen decarboxylase deficiency information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. ... Introduction: Uroporphyrinogen decarboxylase deficiency Description of ...

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★リンクテーブル★

関連記事	「deficiency」「decarboxylase」「uroporphyrinogen」「uroporphyrinogen decarboxylase」

「deficiency」

　　[★]

• 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

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「decarboxylase」

　　[★]

デカルボキシラーゼ、脱炭酸酵素

関

carboxy-lyase

　

「uroporphyrinogen」

　　[★]

ウロ・ルフィリノーゲン

同

uroporphyrinogens

「uroporphyrinogen decarboxylase」

　　[★] ウロポルフィリノーゲン脱炭酸酵素 UROD