hepatophosphorylase deficiency glycogenosis

肝ホスホリラーゼ欠損性糖原病

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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. Classification of diffuse lung disease (interstitial lung disease) in infants and children
• 2. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
• 3. ホスホフルクトキナーゼ欠損症（糖原病VII型、垂井病） phosphofructokinase deficiency glycogen storage disease vii tarui disease
• 4. ホスホリラーゼbキナーゼ欠損症 phosphorylase b kinase deficiency
• 5. 肝ホスホリラーゼ欠損症（糖原病VI型、エール病） liver phosphorylase deficiency glycogen storage disease vi hers disease

English Journal

• Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

• Hoogeveen IJ1, van der Ende RM1, van Spronsen FJ1, de Boer F1, Heiner-Fokkema MR1,2, Derks TG3.
• JIMD reports.JIMD Rep.2015 Nov 3. [Epub ahead of print]
• BACKGROUND: According to the textbooks, the ketotic glycogen storage disease (GSD) types 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia and considered milder as gluconeogenesis is intact.METHODS: A retrospective cohort study of biochemical profiles from supervised clinical f
• PMID 26526422

• Hepatic glycogen storage disorders: what have we learned in recent years?

• Burda P1, Hochuli M.
• Current opinion in clinical nutrition and metabolic care.Curr Opin Clin Nutr Metab Care.2015 Jul;18(4):415-21. doi: 10.1097/MCO.0000000000000181.
• PURPOSE OF REVIEW: Glycogen storage disorders (GSDs) are inborn errors of metabolism with abnormal storage or utilization of glycogen. The present review focuses on recent advances in hepatic GSD types I, III and VI/IX, with emphasis on clinical aspects and treatment.RECENT FINDINGS: Evidence accumu
• PMID 26001652

• The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

• Roscher A1, Patel J2, Hewson S2, Nagy L2, Feigenbaum A3, Kronick J2, Raiman J2, Schulze A4, Siriwardena K2, Mercimek-Mahmutoglu S5.
• Molecular genetics and metabolism.Mol Genet Metab.2014 Nov;113(3):171-6. doi: 10.1016/j.ymgme.2014.09.005. Epub 2014 Sep 21.
• OBJECTIVES: Glycogen storage disease (GSD) types VI and IX are caused by phosphorylase system deficiencies. To evaluate the natural history and long-term treatment outcome of the patients with GSD-VI and -IX, we performed an observational retrospective case study of 21 patients with confirmed diagno
• PMID 25266922

Related Links

• Hepatophosphorylase deficiency glycogenosis ...

Hepatophosphorylase deficiency glycogenosis symptoms, causes, diagnosis, and treatment information for Hepatophosphorylase deficiency glycogenosis (Glycogen storage disease type 6) with alternative diagnoses, full-text book ...

• hepatophosphorylase deficiency glycogenosis - Definition

hepatophosphorylase deficiency glycogenosis definition from the mondofacto online medical dictionary

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★リンクテーブル★

リンク元	「糖原病VI型」「肝ホスホリラーゼ欠損性糖原病」
関連記事	「deficiency」「glycogenosis」

「糖原病VI型」

　　[★]

英

type VI glycogen storage disease、glycogen storage disease type VI, glycogenosis type VI

同

肝ホスホリラーゼ欠損性糖原病 hepatophosphorylase deficiency glycogenosis、エール病 Hers disease、肝型グリコーゲンホスホリラーゼ欠損症 liver glycogen phosphorylase deficiency

6型糖原貯蔵障害、糖原病6型

関

糖原病

「肝ホスホリラーゼ欠損性糖原病」

　　[★]

英

hepatophosphorylase deficiency glycogenosis

関

糖原病VI型

「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

　

「glycogenosis」

　　[★] 糖原病

関

Glycogen storage disease(s) (GSDs)