WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)
《sheの所有代名詞》『彼女のもの』 / 《of hersの形で》彼女の
heliumの化学記号

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/26 22:49:15」(JST)

wiki en

Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated phosphorylase cascade system.^[1]

It is also known as "Hers' disease", after Henri G. Hers, who characterized it in 1959.^[2]^[3]

The scope of GSD VI now also includes glycogen storage disease type VIII,^[1] IX^[1] (caused by phosphorylase b kinase deficiency) and X^[1] (deficiency of protein kinase A). These were previously considered to be distinct GSD types.^[4]

The incidence of GSD VI is approximately 1 case per 65,000–85,000 births,^[1] representing approximately 30% all cases of glycogen storage disease.^[1] Approximately 75% of these GSD VI cases result from the X-linked recessive forms of phosphorylase kinase deficiency.^[1] All other forms are autosomal recessive.^[1]

Presentation

Patients generally have a benign course, and typically present with hepatomegaly^[5] and growth retardation early in childhood. Mild hypoglycemia, hyperlipidemia, and hyperketosis may occur. Lactic acid and uric acid levels may be normal. However, lactic acidosis may occur during fasting. ^[6]

References

^ ^a ^b ^c ^d ^e ^f ^g ^h Glycogen-Storage Disease Type VI at eMedicine
^ Hers' disease at Who Named It?
^ Hers HG (1959). "[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses.]". Rev Int Hepatol (in French) 9 (1): 35–55. PMID 13646331.
^ Ludwig M, Wolfson S, Rennert O (October 1972). "Glycogen storage disease, type 8". Arch. Dis. Child. 47 (255): 830–3. doi:10.1136/adc.47.255.830. PMC 1648209. PMID 4508182.
^ Newgard CB, Fletterick RJ, Anderson LA, Lebo RV (April 1987). "The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14". Am. J. Hum. Genet. 40 (4): 351–64. PMC 1684093. PMID 2883891.
^ http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi

External links

GeneReview/NIH/UW entry on Glycogen Storage Disease Type VI
Asociación Española de Enfermos de Glucogenosis

This article about an endocrine, nutritional or metabolic disease is a stub. You can help Wikipedia by expanding it.

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 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
2. 冠動脈疾患の疫学 epidemiology of coronary heart 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. 閉経期のホルモン療法と心血管リスク menopausal hormone therapy and cardiovascular risk
5. 閉経期のホルモン療法：利益とリスク menopausal hormone therapy benefits and risks

English Journal

Identification of roles for the SNARE-associated protein, SNAP29, in mouse platelets.

Williams CM1, Savage JS1,2, Harper MT1,3, Moore SF1, Hers I1, Poole AW1.
Platelets.Platelets.2015 Nov 20:1-9. [Epub ahead of print]
Platelets are critical for maintaining vascular hemostasis, but also play a major role in the formation of occlusive cardiovascular and cerebrovascular thrombi under disease conditions. Secretion of platelet alpha and dense granules is a requirement for efficient thrombus formation. Understanding an
PMID 26587753

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

Population-based study for human papillomavirus (HPV) infection in women in Japan: A multicenter study by the Japanese human papillomavirus disease education research survey group (J-HERS).

Sasagawa T1, Maehama T2, Ideta K3, Irie T4, Itoh F5; J-HERS Study Group.
Journal of medical virology.J Med Virol.2015 Jul 3. doi: 10.1002/jmv.24323. [Epub ahead of print]
A multi-center study was conducted to examine 6,628 eligible Japanese women aged from 16-50 years for uterine cervical abnormality and HPV infection with a liquid based-cytology test and a novel HPV test using the PCR-SSOP-Luminex® method identifying 31 HPV genotypes. In 3,047 normal subjects, the
PMID 26147986

Japanese Journal

2. 中・高年女性のさらなるQOL向上を目指して : HRT,心身医学の活用による全人的医療(特別講演,第60回学術講演会要旨)

本庄英雄
日本産科婦人科學會雜誌 60(8), 1584-1590, 2008-08-01
… Once, HERS and WHI study denied usefulness of hormone replacement therapy(HRT). … The acute estrogen decrease induces climacteric syndrome induces climacteric syndrome (hot flash, sweating et al.) and very low level of estrogens for long years after that induces many problems in elderly female, for example, cardio-vascular disease, osteoporosis, colpitis senilis, Alzheimer disease et al. … reduces future Alzheimer disease (odds raio 0.35). …
NAID 110006862546

Practice use of Unkeito (Wen-jing-tang), a herbal medicine, in the management of women's health : Efficacy for ovulatory failure and chilly sensation

Ushiroyama Takahisa
和漢医薬学雑誌 24(1), 1-18, 2007-02-28
… such as the Women's Health Initiative (WHI), HERS study and its follow-up HERS II study, and European clinical research group published Million Women study resulted in a major shift in the recommendation on hormone replacement therapy to alternative medicine such as herbal medicine (Kampo medicine) in the treatment of peri-and postmenopausal women with several undefined symptoms and ovariectomy by the reason of substantial risks for cardiovascular disease and breast cancer during the treatment with …
NAID 110006224305

地域在住高齢者のバウムテスト(III) : 高齢者の精神症状とバウムテスト

坂口守男,朝井均,朝井忠 [他],大家尚文,志波充,朝井知,弓庭喜美子,岡本五百合
大阪教育大学紀要. 第III部門, 自然科学・応用科学 54(2), 115-125, 2006-02-28
地域在住高齢者のバウムテストに関する第3報として,今回は老年期のうつ病と老年期の妄想性障害の事例を提示し,それぞれの精神症状とパウムテストとの関係について検討した。更に精神症状を持ちながら地域で生活する時のあり方についても若干の考案を加えた。老年期うつ病の事例は85歳女性である。夫を亡くしてから一人暮らしを続けていたが,3年ほどして抑うつ状態を呈するようになり,不眠,抑うつ気分,意欲低下が2年間続 …
NAID 110004867625

「エール病」

Glycogen storage disease type VI
	Glycogen
Classification and external resources
ICD-10	E74.0
ICD-9	271.0
OMIM	232700
DiseasesDB	5311
eMedicine	med/912 ped/2564
MeSH	D006013
GeneReviews	Glycogen Storage Disease Type VI;

　　[★]

英: Hers' disease、Hers disease
同: VI型糖原病、糖原病VI型、; エルス病、Hers病、ヘルス病、ハース病、ハーズ病
関: 糖原病、肝ホスホリラーゼ

[show details]

エルス病 : 29 件
エール病 : 約 2,780 件
ヘルス病 : 約 1,320 件
ハーズ病 : 11 件
ハース病 : 49 件

エルス病 Hers : 26 件
エール病 Hers : 31 件
ヘルス病 Hers : 14 件
ハーズ病 Hers : 16 件
ハース病 Hers : 18 件