storage disease

蓄積病

WordNet

1. an impairment of health or a condition of abnormal functioning
2. (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
3. the act of storing something
4. the commercial enterprise of storing goods and materials
5. 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

1. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
2. 女性の話術芸人 =diseur
3. (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
4. 病気にかかった / 病的な,不健全な(morbid)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/10/19 09:02:32」(JST)

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Inborn error of metabolism
Classification and external resources
ICD-10	E70-E90
ICD-9-CM	270-279
MedlinePlus	002438
eMedicine	emerg/768 article/804757
MeSH	D008661

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases.

The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857–1936), in the early 20th century (1908). He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published in 1923.

Classification

Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. Many others do not fall into these categories.

• Disorders of carbohydrate metabolism
  • E.g., glycogen storage disease
• Disorders of amino acid metabolism
  • E.g., phenylketonuria, maple syrup urine disease, glutaric acidemia type 1
• Urea Cycle Disorder or Urea Cycle Defects
  • E.g., Carbamoyl phosphate synthetase I deficiency
• Disorders of organic acid metabolism (organic acidurias)
  • E.g., alcaptonuria, 2-hydroxyglutaric acidurias
• Disorders of fatty acid oxidation and mitochondrial metabolism
  • E.g., Medium-chain acyl-coenzyme A dehydrogenase deficiency (often shortened to MCADD.)
• Disorders of porphyrin metabolism
  • E.g., acute intermittent porphyria
• Disorders of purine or pyrimidine metabolism
  • E.g., Lesch-Nyhan syndrome
• Disorders of steroid metabolism
  • E.g., lipoid congenital adrenal hyperplasia, congenital adrenal hyperplasia
• Disorders of mitochondrial function
  • E.g., Kearns-Sayre syndrome
• Disorders of peroxisomal function
  • E.g., Zellweger syndrome
• Lysosomal storage disorders
  • E.g., Gaucher's disease
  • E.g., Niemann Pick disease

Signs and symptoms

Because of the enormous number of these diseases and wide range of systems affected, nearly every "presenting complaint" to a doctor may have a congenital metabolic disease as a possible cause, especially in childhood. The following are examples of potential manifestations affecting each of the major organ systems: many manifestations may develop

• Growth failure, failure to thrive, weight loss
• Ambiguous genitalia, delayed puberty, precocious puberty
• Developmental delay, seizures, dementia, encephalopathy, stroke
• Deafness, blindness, pain agnosia
• Skin rash, abnormal pigmentation, lack of pigmentation, excessive hair growth, lumps and bumps
• Dental abnormalities
• Immunodeficiency, low platelet count, low red blood cell count, enlarged spleen, enlarged lymph nodes
• Many forms of cancer
• Recurrent vomiting, diarrhea, abdominal pain
• Excessive urination, kidney failure, dehydration, edema
• Low blood pressure, heart failure, enlarged heart, hypertension, myocardial infarction
• Liver enlargement, jaundice, liver failure
• Unusual facial features, congenital malformations
• Excessive breathing (hyperventilation), respiratory failure
• Abnormal behavior, depression, psychosis
• Joint pain, muscle weakness, cramps
• Hypothyroidism, adrenal insufficiency, hypogonadism, diabetes mellitus

Diagnosis

Dozens of congenital metabolic diseases are now detectable by newborn screening tests, especially the expanded testing using mass spectrometry. This is an increasingly common way for the diagnosis to be made and sometimes results in earlier treatment and a better outcome. There is a revolutionary GC/MS based technology with an integrated analytics system, which has now made it possible to test a newborn for over 100 genetic metabolic disorders.

Because of the multiplicity of conditions, many different diagnostic tests are used for screening. An abnormal result is often followed by a subsequent "definitive test" to confirm the suspected diagnosis.

Common screening tests used in the last sixty years:

• Ferric chloride test (turned colors in reaction to various abnormal metabolites in urine)
• Ninhydrin paper chromatography (detected abnormal amino acid patterns)
• Guthrie bacterial inhibition assay (detected a few amino acids in excessive amounts in blood) The dried blood spot can be used for multianalyte testing using Tandem Mass Spectrometry (MS/MS). This given an indication for a disorder. The same has to be further confirmed by enzyme assays, IEX-Ninhydrin, GC/MS or DNA Testing.
• Quantitative measurement of amino acids in plasma and urine
• IEX-Ninhydrin post column derivitization liquid ion-exchange chromatography (detected abnormal amino acid patterns and quantitative analysis)
• Urine organic acid analysis by Gas chromatography-mass spectrometry
• Plasma acylcarnitines analysis by mass spectrometry
• Urine purines and pyrimidines analysis by Gas chromatography-mass spectrometry

Specific diagnostic tests (or focused screening for a small set of disorders):

• Tissue biopsy or necropsy: liver, muscle, brain, bone marrow
• Skin biopsy and fibroblast cultivation for specific enzyme testing
• Specific DNA testing

A 2015 review reported that even with all these diagnostic tests, there are cases when “biochemical testing, gene sequencing, and enzymatic testing can neither confirm nor rule out an IEM, resulting in the need to rely on the patient’s clinical course.”

Treatment

In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many previously untreatable disorders. Some of the more common or promising therapies are listed:

• Dietary restriction
  • E.g., reduction of dietary protein remains a mainstay of treatment for phenylketonuria and other amino acid disorders
• Dietary supplementation or replacement
  • E.g., oral ingestion of cornstarch several times a day helps prevent people with glycogen storage diseases from becoming seriously hypoglycemic.
• Vitamins
  • E.g., thiamine supplementation benefits several types of disorders that cause lactic acidosis.
• Intermediary metabolites, compounds, or drugs that facilitate or retard specific metabolic pathways
• Dialysis
• Enzyme replacement E.g. Acid-alpha glucosidase for Pompe disease
• Gene therapy
• Bone marrow or organ transplantation
• Treatment of symptoms and complications
• Prenatal diagnosis

Epidemiology

In a study in British Columbia, the overall incidence of the inborn errors of metabolism were estimated to be 40 per 100,000 live births or 1 in 1,400 births, overall representing more than approximately 15% of single gene disorders in the population.

Type of inborn error	Incidence
Disease involving amino acids (e.g. PKU), organic acids, primary lactic acidosis, galactosemia, or a urea cycle disease	24 per 100 000 births	1 in 4,200
Lysosomal storage disease	8 per 100 000 births	1 in 12,500
Peroxisomal disorder	~3 to 4 per 100 000 of births	~1 in 30,000
Respiratory chain-based mitochondrial disease	~3 per 100 000 births	1 in 33,000
Glycogen storage disease	2.3 per 100 000 births	1 in 43,000

References

External links

The National Institutes of Health offers theoffice of rare diseases, home reference, medlineplus andhealth information. The National Human Genome Research Institute hosts an information center, a section forpatients and the public and additionaleducational resources. Support groups can be found atNORD, Genetic Alliance and Orphanet. The genetic education center at the KUMC has many more useful links.

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. 先天性代謝異常：分類 inborn errors of metabolism classification
• 2. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
• 3. グリコーゲン脱分枝酵素欠損症（糖原病III型） glycogen debrancher deficiency glycogen storage disease iii
• 4. ゴーシェ病：病因、臨床症状、および診断 gaucher disease pathogenesis clinical manifestations and diagnosis
• 5. 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

English Journal

• Expression of pathogenesis-related (PR) genes in avocados fumigated with thyme oil vapours and control of anthracnose.

• Bill M1, Sivakumar D2, Beukes M3, Korsten L4.
• Food chemistry.Food Chem.2016 Mar 1;194:938-43. doi: 10.1016/j.foodchem.2015.08.105. Epub 2015 Aug 28.
• Thyme oil (TO) fumigation (96μll(-1)) to cv. Hass and Ryan avocados significantly reduced anthracnose incidence compared to prochloraz and the untreated control. Also, enhanced activities of β-1,3-glucanase, chitinase were noted in both cultivars. TO fumigation induced the expression of both β-1,
• PMID 26471637

• Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII.

• Khan FI1, Shahbaaz M1, Bisetty K1, Waheed A2, Sly WS2, Ahmad F3, Hassan MI4.
• Gene.Gene.2016 Jan 15;576(1 Pt 1):36-44. doi: 10.1016/j.gene.2015.09.062. Epub 2015 Sep 28.
• The lysosomal storage disorders are a group of 50 unique inherited diseases characterized by unseemly lipid storage in lysosomes. These malfunctions arise due to genetic mutations that result in deficiency or reduced activities of the lysosomal enzymes, which are responsible for catabolism of biolog
• PMID 26415878

• GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.

• Peng H1, Xu X2, Zhang L3, Zhang X4, Peng H1, Zheng Y1, Luo S1, Guo H1, Xia K1, Li J1, Yao H5, Hu Z6.
• Gene.Gene.2016 Jan 10;575(2 Pt 1):363-7. doi: 10.1016/j.gene.2015.09.088. Epub 2015 Oct 9.
• Fabry disease (FD) was an X-linked lysosomal storage disorder resulting from a deficiency in glycosphingolipid catabolism caused by mutations in the α-galactosidase A gene GLA. Variant FD patients did not present with classical symptoms during childhood and were undiagnosed or misdiagnosed with oth
• PMID 26456105

Japanese Journal

• Viable Neuronopathic Gaucher Disease Model in Medaka (Oryzias latipes) Displays Axonal Accumulation of Alpha-Synuclein.

• Uemura Norihito,Koike Masato,Ansai Satoshi,Kinoshita Masato,Ishikawa-Fujiwara Tomoko,Matsui Hideaki,Naruse Kiyoshi,Sakamoto Naoaki,Uchiyama Yasuo,Todo Takeshi,Takeda Shunichi,Yamakado Hodaka,Takahashi Ryosuke
• PLOS genetics 11(4), 2015-04-02
• … 2015-04-09.Homozygous mutations in the glucocerebrosidase (GBA) gene result in Gaucher disease (GD), the most common lysosomal storage disease. … Recent genetic studies have revealed that GBA mutations confer a strong risk for sporadic Parkinson's disease (PD). …
• NAID 120005593596

• 滋賀県における育苗時のイネばか苗病多発の原因と対策 (環境負荷のより小さい病害虫の防除に向けて)

• 井田 陽介,北澤 健
• 日本農薬学会誌 = Japanese journal of pesticide science 40(1), 8-11, 2015-02
• NAID 40020385941

• グリコーゲン代謝 : 筋肉から脳へ

• 杉江 秀夫
• 脳と発達 47(2), 94-98, 2015
• … 従来本症は "糖原病" と呼称しているが, 症例によってはグリコーゲンがほぼ正常あるいはグリコーゲンが逆に枯渇している疾患があることが判明し, 糖原病 (glycogen storage disease ; …
• NAID 130005005772

Related Links

• storage disease - definition of storage disease by Medical ...

storage disease n. Any of various metabolic disorders usually caused by a congenital enzyme deficiency and characterized by the accumulation of a specific substance, such as a lipid or protein, within tissues. storage disease, a ...

• Storage disease | Define Storage disease at Dictionary.com

storage disease n. Any of various metabolic disorders usually caused by a congenital enzyme deficiency and characterized by the accumulation of a specific substance, such as a lipid or protein, within tissues.

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★リンクテーブル★

リンク元	「蓄積症」「蓄積病」
拡張検索	「glycogen storage disease type III」「lysosomal glycogen storage disease without glucosidase deficiency」「type VII glycogen storage disease」「infantile sialic acid storage disease」
関連記事	「disease」「storage」

「蓄積症」

　　[★]

英

storage disease

同

沈着症、貯蔵症

関

リソソーム病、代謝性細網症

「蓄積病」

　　[★]

英

accumulation disease, storage disease

「glycogen storage disease type III」

　　[★]

(amylo-1、3型糖原貯蔵障害

関

Cori's disease、debrancher deficiency、limit dextrinosis、type III glycogen storage disease

「lysosomal glycogen storage disease without glucosidase deficiency」

　　[★] グルコシダーゼ欠損を伴わないリソソームグリコーゲン蓄積病

「type VII glycogen storage disease」

　　[★]

糖原病VII型、糖原病7型

関

glycogen storage disease type VII

「infantile sialic acid storage disease」

　　[★] 乳児シアル酸蓄積病 ISSD

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder

　 　 　

「storage」

　　[★]

• n.

• 貯蔵

関

pool、pooling、preservation、preserve、reserve、store