PBGD deficiency

同

porphobilinogen deaminase

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

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• 1. 急性間欠性ポルフィリン症の病因、臨床症状および診断 pathogenesis clinical manifestations and diagnosis of acute intermittent porphyria
• 2. 小児における急性発症性精神病の救急外来による評価 emergency department evaluation of acute onset psychosis in children
• 3. 急性間欠性ポルフィリン症のマネージメントおよび予後 management and prognosis of acute intermittent porphyria
• 4. Etiology and evaluation of the child with weakness
• 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

• Anesthesia for hemicolectomy in a known porphyric with cecal malignancy.

• Naithani BK1, Shah SB1, Bhargava AK1, Batra V1.
• Saudi journal of anaesthesia.Saudi J Anaesth.2015 Jan;9(1):82-5. doi: 10.4103/1658-354X.146320.
• Intraoperative management of a known acute intermittent porphyria patient is a challenge requiring awareness of factors, which trigger an acute crisis, clinical features of a porphyric attack, knowledge of safe pharmacologic intervention, and preparedness for reintubation and ventilatory support. Th
• PMID 25558204

• Acute Porphyrias in the USA: Features of 108 Subjects from Porphyrias Consortium.

• Bonkovsky HL1, Maddukuri VC2, Yazici C2, Anderson KE3, Bissell DM4, Bloomer JR5, Phillips JD6, Naik H7, Peter I7, Baillargeon G3, Bossi K8, Gandolfo L9, Light C9, Bishop D7, Desnick RJ7.
• The American journal of medicine.Am J Med.2014 Dec;127(12):1233-41. doi: 10.1016/j.amjmed.2014.06.036. Epub 2014 Jul 10.
• BACKGROUND: Recent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical, and genetic features of 108 subjects.METHODS: Between September 2010 and December 2012, 108 subjects with acute porphyrias (
• PMID 25016127

• Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.

• Schneider-Yin X1, Serooskerken AM2, Siegesmund M3, Went P4, Barman-Aksözen J1, Bladergroen RS2, Komminoth P5, Cloots RH6, Winnepenninckx VJ6, Hausen AZ6, Weber M7, Driessen A6, Poblete-Gutiérrez P8, Bauer P9, Schroeder C9, Geel MV2, Minder EI1, Frank J10.
• Journal of hepatology.J Hepatol.2014 Nov 28. pii: S0168-8278(14)00878-2. doi: 10.1016/j.jhep.2014.11.029. [Epub ahead of print]
• Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. A rare but serious complication in the AHPs is hepatocel
• PMID 25445397

Related Links

• PBGD deficiency - RightDiagnosis.com - Right Diagnosis

PBGD deficiency symptoms, causes, diagnosis, and treatment information for PBGD deficiency (Acute intermittent porphyria) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and ...

• 疾患詳細

#176000 Porphyria, acute intermittent (AIP) (Porphyria, Swedish type) (Porphobilinogen deaminase deficiency) (PBGD deficiency) (Uroporphyrinogen synthase deficiency) (UPS deficiency) (Porphyria, acute intermittent, nonerythyroid ...

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★リンクテーブル★

関連記事	「deficiency」「PBG」「PB」「PBGD」

「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

　

「PBG」

　　[★] ポルフォビリノゲン porphobilinogen

「PB」

　　[★] フェノバルビタール phenobarbital

「PBGD」

　　[★]

同

porphobilinogen deaminase