hepatic phosphorylase kinase deficiency

肝ホスホリラーゼキナーゼ欠損症

WordNet

1. pertaining to or affecting the liver; "hepatic ducts"; "hepatic cirrhosis"
2. an enzyme that catalyzes the conversion of a proenzyme to an active enzyme
3. the basic unit of money in Papua New Guinea

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. 肝臓の;肝臓にきく,肝臓のような色の

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• 1. ホスホリラーゼbキナーゼ欠損症 phosphorylase b kinase deficiency
• 2. 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
• 3. 幼児および小児における低血糖症の病因 etiology of hypoglycemia in infants and children
• 4. 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
• 5. 複合免疫不全 combined immunodeficiencies

English Journal

• Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

• Albash B1, Imtiaz F, Al-Zaidan H, Al-Manea H, Banemai M, Allam R, Al-Suheel A, Al-Owain M.
• European journal of pediatrics.Eur J Pediatr.2014 May;173(5):647-53. doi: 10.1007/s00431-013-2223-0. Epub 2013 Dec 11.
• Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. The first two genes are X-linked while the latter two follow an autosomal recessive inheritance. The majority of c
• PMID 24326380

• Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

• Achouitar S1, Goldstein JL, Mohamed M, Austin S, Boyette K, Blanpain FM, Rehder CW, Kishnani PS, Wortmann SB, den Heijer M, Lefeber DJ, Wevers RA, Bali DS, Morava E.
• Molecular genetics and metabolism.Mol Genet Metab.2011 Dec;104(4):691-4. doi: 10.1016/j.ymgme.2011.08.021. Epub 2011 Aug 26.
• We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect. Most patients presented with isolated growth delay and diarrhea, prior to the occurrence of hepatomegaly, delaying diagnosis
• PMID 21911307

• Glycogen storage disease type IX: High variability in clinical phenotype.

• Beauchamp NJ1, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M.
• Molecular genetics and metabolism.Mol Genet Metab.2007 Sep-Oct;92(1-2):88-99. Epub 2007 Aug 3.
• Glycogen storage disease type IX (GSD type IX) results from a deficiency of hepatic phosphorylase kinase activity. The phosphorylase kinase holoenzyme is made up of four copies of each of four subunits (alpha, beta, gamma and delta). The liver isoforms of the alpha-, beta- and gamma-subunits are enc
• PMID 17689125

Japanese Journal

• 臨床研究・症例報告 軽度の肝腫大,肝障害で経過観察されていたX連鎖性肝型ホスホリラーゼbキナーゼ欠損症の双胎児

• 西尾 信博,邊見 勇人,佐々木 明
• 小児科臨床 65(2), 243-247, 2012-02
• NAID 40019146471

• Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency

• BAN KYOKO,SUGIYAMA KOHACHIRO,GOTO KENJI,MIZUTANI FUMIHIKO,TOGARI HAJIME
• Tohoku journal of experimental medicine 200(1), 47-53, 2003-05-01
• NAID 10011990298

• Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency

• , , , ,
• The Tohoku Journal of Experimental Medicine 200(1), 47-53, 2003
• … We analyzed the PHKA2 gene in four Japanese families with hepatic phosphorylase kinase (PhK) deficiency. … Gene analysis was confirmed to represent a useful procedure for diagnosing XLG type II, for which liver biopsy had previously been required to detect hepatic PhK deficiency. …
• NAID 130004459252

Related Links

• Liver glycogenosis and phosphorylase kinase deficiency.

Hug G, Schubert WK, Chuck G. Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen. Science. 1966 Sep 23; 153 (743):1534–1535. [PubMed] Hug G, Schubert WK, Chuck G. Deficient activity of ...

• Liver phosphorylase deficiency (glycogen storage disease VI ...

A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity. Mol Genet Metab 2003; 79:142. Beauchamp NJ, Taybert J, Champion MP, et al ...

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★リンクテーブル★

リンク元	「糖原病VIII型」「肝ホスホリラーゼキナーゼ欠損症」
関連記事	「deficiency」「hepatic」「kinase」「phosphorylase kinase」

「糖原病VIII型」

　　[★]

英

type VIII glycogen storage disease、glycogen storage disease type VIII

同

8型糖原貯蔵障害、糖原病8型, glycogenosis type VIII、肝ホスホリラーゼキナーゼ欠損症 hepatic phosphorylase kinase deficiency、ホスホリラーゼキナーゼ欠損症 phosphorylase kinase deficiency

「肝ホスホリラーゼキナーゼ欠損症」

　　[★]

英

hepatic phosphorylase kinase deficiency

関

糖原病VIII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

　

「hepatic」

　　[★]

• adj.

• 肝臓の、肝性の、肝の

関

hepato、hepatogenic、liver

　 　

「kinase」

　　[★] キナーゼ カイネース リン酸化酵素 phosphoenzyme phosphotransferase 　

「phosphorylase kinase」

　　[★] ホスホリラーゼキナーゼ