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
a Danish author remembered for his fairy stories (1805-1875) (同)Hans Christian Andersen

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)
アンデルセン(Hans Christian Andedersen;1805‐75;デンマークの童話作家)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/12 20:47:57」(JST)

wiki en

Glycogen storage disease type IV is a rare hereditary metabolic disorder. It is the result of a mutation in GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen cells accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. Glycogen Storage Disease Type IV is autosomal recessive, which means each parent has a mutant copy of the gene but show no symptoms of the disease.

Synonyms

It is also known as:

Glycogenosis type IV
Glycogen branching enzyme deficiency
Polyglucosan body disease
Amylopectinosis

Eponym

The eponym "Andersen's disease" is sometimes used, for Dorothy Hansine Andersen.^[1]^[2]

Human pathology

It is a result of the absence of the glycogen branching enzyme amylo-1,4-1,6 transglucosidase, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules have a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The probable end result is cirrhosis and death within 5 years. In adults, the activity of the enzyme is higher and symptoms do not appear until later in life.

Variant types

Fatal perinatal neuromuscular type

Excess fluid builds up around fetus and in the fetus’ body
Fetus have condition called akinesia deformation sequence
Causes decrease in fetal movement and stiffness of joints after birth
Infants have low muscle tone and muscle wasting
Do not survive past newborn stage due to weakened heart and lungs

Congenital muscular type

Develops in early infancy
Babies have dilated cardiomyopathy, preventing heart from pumping efficiently
Only survive a few months

Progressive hepatic type

Infants have difficulty gaining weight
Develop enlarged liver and cirrhosis, that is irreversible
High BP in hepatic portal vein and build up of fluid in abdominal cavity
Die of liver failure in early childhood

Non-progressive hepatic type

Same as progressive, but liver disease is not as severe
Do not usually develop cirrhosis
Usually show muscle weakness and hypotonia
Survive into adulthood
Life expectancy varies on severity of symptoms

Childhood neuromuscular type

Develops in late childhood
Has myopathy and dilated cardiomyopathy
Varies greatly
Some have mild muscle weakness
Some have severe cardiomyopathy and die in early adulthood

Horse pathology

References

^ Andersen's disease (Dorothy Hansine Andersen) at Who Named It?
^ Andersen DH (1956). "Familial cirrhosis of the liver with storage of abnormal glycogen". Lab. Invest. 5 (1): 11–20. PMID 13279125.

External links

Glycogen storage disease type IV at GPnotebook
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.

This genetic disorder article 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. グリコーゲン分枝酵素欠損症（糖原病IV型、アンダーセン病） glycogen branching enzyme deficiency glycogen storage disease iv andersen disease
2. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
3. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
4. 肝肥大：鑑別診断および評価 hepatomegaly differential diagnosis and evaluation
5. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder

English Journal

Pulmonary hypertension in interstitial lung disease: Prevalence, prognosis and 6 min walk test.

Andersen CU, Mellemkjær S, Hilberg O, Nielsen-Kudsk JE, Simonsen U, Bendstrup E.SourceDepartment of Biomedicine, Aarhus University, Wilhelm Meyers Alle 4, 8000 Aarhus C, Denmark.
Respiratory medicine.Respir Med.2012 Jun;106(6):875-82. Epub 2012 Mar 15.
BACKGROUND: Pulmonary hypertension (PH) is an important complication to interstitial lung disease (ILD). The aim of the present study was to investigate the prevalence and impact of PH on prognosis and exercise capacity in ILD patients.METHODS: 212 ILD patients were screened for PH by echocardiograp
PMID 22425136

Coagulation and fibrinolytic disturbances are related to carotid intima thickness and arterial blood pressure in Turner syndrome.

Gravholt CH, Mortensen KH, Andersen NH, Ibsen L, Ingerslev J, Hjerrild BE.SourceDepartment of Endocrinology and Internal Medicine and Medical Research Laboratories, Aarhus Hospital NBG, Aarhus University Hospital, Aarhus CDepartment of Cardiology, Skejby Hospital, Aarhus University Hospital, Aarhus, Aarhus NDepartment of Radiology, Aarhus University Hospital Skejby, AarhusCentre for Haemophilia and Thrombosis, Department of Clinical Biochemistry, Skejby Hospital, Aarhus University Hospital, Aarhus N, Demmark.
Clinical endocrinology.Clin Endocrinol (Oxf).2012 May;76(5):649-56. doi: 10.1111/j.1365-2265.2011.04190.x.
Objective Turner syndrome (TS) is characterized by growth retardation, hypogonadism and a high risk of cardiovascular complications and atherosclerosis; case reports suggest that thrombo-embolic complications may be present. Design Cross-sectional study. Patients Sixty women with TS. Measur
PMID 21848660

Japanese Journal

Interferon-Gamma Release Assays (IGRA) and antigens for detection of latent infection and prediction of disease

ANDERSEN Peter
結核 83(9), 642-643, 2008-09-15
NAID 10025689066

Present and future of TB vaccine development research

ANDERSEN Peter
結核 83(9), 638-639, 2008-09-15
NAID 10025689054

Related Pictures

★リンクテーブル★

リンク元	「アンダーセン病」「アンダースン病」「glycogen storage disease type IV」「アンダーソン病」「amylopectinosis」
関連記事	「disease」

「アンダーセン病」

Glycogen storage disease type IV
	Glycogen
Classification and external resources
ICD-10	E74.0
ICD-9	271.0
OMIM	232500 263570 607839
DiseasesDB	5303
eMedicine	med/910 ped/97
MeSH	D006011
GeneReviews	Glycogen storage disease type IV; Adult polyglucosan body disease;