ALAD deficiency

同

5-aminolevulinic acid dehydratase

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
2. Alabama

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• 1. ALA脱水酵素欠損性ポルフィリン症 ala dehydratase porphyria
• 2. 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
• 3. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
• 4. ポルフィリン症：概要 porphyrias an overview
• 5. チロシン代謝障害 disorders of tyrosine metabolism

English Journal

• High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria.

• Sardh E1, Wahlin S, Björnstedt M, Harper P, Andersson DE.
• Journal of inherited metabolic disease.J Inherit Metab Dis.2013 Nov;36(6):1063-71. doi: 10.1007/s10545-012-9576-9. Epub 2013 Jan 23.
• BACKGROUND/AIMS: Previous studies have indicated a high risk of hepatocellular carcinoma in acute hepatic porphyrias. In this retrospective study we present the incidence of primary liver cancer and clinical characteristics in a cohort of 179 acute porphyria patients above the age of 50 years.METHOD
• PMID 23344888

• The incidence of inherited porphyrias in Europe.

• Elder G1, Harper P, Badminton M, Sandberg S, Deybach JC.
• Journal of inherited metabolic disease.J Inherit Metab Dis.2013 Sep;36(5):849-57. doi: 10.1007/s10545-012-9544-4. Epub 2012 Nov 1.
• Retrospective estimates of the prevalence of porphyrias have been reported but there has been no large scale prospective study of their incidence. The European Porphyria Network collected information prospectively over a 3 year period about the number of newly diagnosed symptomatic patients with an
• PMID 23114748

• [Hereditary coproporphyria from clinician's point of view--a case report].

• Savić Z1, Vracarić V, Hadnadev L, Petrović Z, Damjanov D.
• Medicinski pregled.Med Pregl.2013 Sep-Oct;66(9-10):411-5.
• INTRODUCTION: Acute hepatic porphyrias can mimic a range of unrelated diseases and conditions that may occur independently of porphyria and trigger their initial manifestations and further attacks.CASE REPORT: A 46-year-old female patient was subjected to cholecystectomy for biliary colic. Histopath
• PMID 24245452

Japanese Journal

• DIETARY INTERVENTION MIGHT ENHANCE THE RBC CELL METABOLISM(Proceedings of The 8^<th> Asian Federation of Sports Medicine Congress 2005 Tokyo)

• 体力科學 55(Supplement), 173-178, 2006-10-01
• NAID 110004821467

• 女子学生ランナーの合宿時における鉄補足が赤血球δ‐ＡＬＡＤ活性に及ぼす影響

• 栄養学雑誌 56(5), 265-275, 1998
• NAID 130003667626

• δ-AMINOLEVULINIC ACID DEHYDRATASE DEFICIENCY PORPHYRIA (ADP) WITH SYNDROME OF INAPPROPRIATE SECRETION OF ANTIDIURETIC HORMONE (SIADH) IN A 69-YEAR-OLD WOMAN

• The Kobe journal of the medical sciences 41(1/2), 23-31, 1995-04
• NAID 110000018639

Related Links

• ALAD deficiency - RightDiagnosis.com - Right Diagnosis

ALAD deficiency symptoms, causes, diagnosis, and treatment information for ALAD deficiency (Porphyria, Ala-D) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis. ...

• ALAD-Deficiency Porphyria (ADP) | American Porphyria ...

What is δ-Aminolevulinic Acid Dehydratase Porphyria? ADP is a severe disorder caused by a deficiency of the enzyme δ-aminolevulinic acid dehydratase (ALAD) which results in an increase of 5’-aminolevulinic acid (ALA) in the liver ...

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★リンクテーブル★

関連記事	「deficiency」「AL」「ALAD」「ALA」

「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

　

「AL」

　　[★]

• アルギニノコハク酸リアーゼ argininosuccinate lyase
• 急性白血病 acute leukemia
• アミロイドL鎖蛋白質 amyloid light chain protein

　

「ALAD」

　　[★] アミノレブリン酸デヒドラターゼ 5-aminolevulinic acid dehydratase

「ALA」

　　[★] 5-アミノレブリン酸 5-aminolevulinate