酸性尿

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abnormal presence of amino acids in the urine; usually a symptom of metabolic defects

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/01/30 12:00:23」(JST)

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Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic disorders which disrupt normal amino acid metabolism, particularly branched-chain amino acids, causing a buildup of acids which are usually not present.^[1]

The branched-chain amino acids include isoleucine, leucine and valine.^[1] Organic acids refer to the amino acids and certain odd-chained fatty acids which are affected by these disorders.

The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.^[1]

Diagnosis and symptoms

Organic acidemias are usually diagnosed in infancy, characterized by urinary excretion of abnormal amounts or types of organic acids. The diagnosis is usually made by detecting an abnormal pattern of organic acids in a urine sample by gas chromatography-mass spectrometry. In some conditions, the urine is always abnormal, in others the characteristic substances are only present intermittently. Many of the organic acidemias are detectable by newborn screening with tandem mass spectrometry.^[2]

These disorders vary in their prognosis, from manageable to fatal, and usually affect more than one organ system, especially the central nervous system.

Neurological damage and developmental delay are common factors in diagnosis, with associated symptoms ranging from poor feeding to slow growth, lethargy, vomiting, dehydration, malnutrition, hypoglycemia, hypotonia, metabolic acidosis, ketoacidosis, hyperammonemia, and if left untreated, death.^[3]

Cause

Most of the organic acidemias result from defective autosomal genes for various enzymes important to amino acid metabolism. Neurological and physiological harm is caused by this impaired ability to synthesize a key enzyme required to break down a specific amino acid, or group of amino acids, resulting in acidemia and toxicity to specific organs systems. Most are inherited as autosomal recessive diseases.^[4]^[5]

Treatment

Treatment or management of organic acidemias vary; eg see methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.

As of 1984 there were no effective treatments for all of the conditions, though treatment for some included a limited protein/high carbohydrate diet, intravenous fluids, amino acid substitution, vitamin supplementation, carnitine, induced anabolism,^[6] and in some cases, tube-feeding.

As of 1993 ketothiolase deficiency and other OAs were managed by trying to restore biochemical and physiologic homeostasis; common therapies included restricting diet to avoid the precursor amino acids and use of compounds to either dispose of toxic metabolites or increase enzyme activity.^[7]

External links

GeneReviews/UW/NIH entry on Organic acidemias
http://www.e-imd.org/en/index.phtml

References

^ ^a ^b ^c Ogier de Baulny H, Saudubray JM (2002). "Branched-chain organic acidurias". Semin Neonatol. 7 (1): 65–74. doi:10.1053/siny.2001.0087. PMID 12069539.
^ Dionisi-Vici C, Deodato F, Raschinger W, Rhead W, Wilcken B (2006). "Classical organic acidurias, propionic aciduria, methylmalonic aciduria, and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry". J Inherit Metab Dis. 29 (2–3): 383–389. doi:10.1007/s10545-006-0278-z. PMID 16763906.
^ Pellock, John M.; Myer, Edwin C. (2013-10-22). Neurologic Emergencies in Infancy and Childhood. Butterworth-Heinemann. ISBN 9781483193922. Retrieved 2015-04-17.
^ Häberle, Johannes; Boddaert, Nathalie; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Huemer, Martina; Karall, Daniela; Martinelli, Diego; Crespo, Pablo S. (2012-05-29). "Suggested guidelines for the diagnosis and management of urea cycle disorders". Orphanet Journal of Rare Diseases. 7 (1): 32. doi:10.1186/1750-1172-7-32. ISSN 1750-1172. PMC 3488504. PMID 22642880. Retrieved 2015-04-17.
^ Kölker, Stefan; Christensen, Ernst; Leonard, James V.; Greenberg, Cheryl R.; Boneh, Avihu; Burlina, Alberto B.; Burlina, Alessandro P.; Dixon, Marjorie; Duran, Marinus (2011). "Diagnosis and management of glutaric aciduria type I – revised recommendations". Journal of Inherited Metabolic Disease. 34 (3): 677–694. doi:10.1007/s10545-011-9289-5. ISSN 0141-8955. PMC 3109243. PMID 21431622.
^ Saudubray JM, Ogier H, Charpentier C, Depondt E, Couda FX, Munnich A, Mitchell G, Rey F, Rey J, Frazal J (1984). "Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update". J Inherit Metab Dis. 7 (Suppl. 1): 2–9. doi:10.1007/978-94-009-5612-4_2. PMID 6434839.
^ Seashore, MR; Pagon, RA; Adam, MP; Ardinger, HH; Bird, TD; Dolan, CR; Fong, CT; Smith, RJH; Stephens, K (1993). "The Organic Acidemias: An Overview". PMID 20301313.

UpToDate Contents

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English Journal

A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome.

Zapała B1, Płatek T, Wybrańska I.
Annals of human genetics.Ann Hum Genet.2015 May;79(3):218-24. doi: 10.1111/ahg.12108. Epub 2015 Mar 16.
Barth syndrome (BTHS) is an X-linked recessive disease primarily affecting males. Clinically, the disease is characterized by hypertrophic or dilated cardiomyopathy, skeletal myopathy, chronic/cyclic neutropenia, 3-methylglutaconic aciduria, growth retardation and respiratory chain dysfunction. It i
PMID 25776009

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.

Sauer SW1, Opp S1, Komatsuzaki S1, Blank AE2, Mittelbronn M2, Burgard P1, Koeller DM3, Okun JG1, Kölker S4.
Biochimica et biophysica acta.Biochim Biophys Acta.2015 May;1852(5):768-77. doi: 10.1016/j.bbadis.2014.12.022. Epub 2015 Jan 2.
Glutaric aciduria type I is an inherited defect in l-lysine, l-hydroxylysine and l-tryptophan degradation caused by deficiency of glutaryl-CoA dehydrogenase (GCDH). The majority of untreated patients presents with accumulation of neurotoxic metabolites - glutaric acid (GA) and 3-hydroxyglutaric acid
PMID 25558815

MRS features during encephalopathic crisis period in 11years old case with GA-1.

Kurtcan S1, Aksu B2, Alkan A2, Guler S3, Iscan A3.
Brain & development.Brain Dev.2015 May;37(5):546-51. doi: 10.1016/j.braindev.2014.09.001. Epub 2014 Sep 30.
Glutaric aciduria type-1 (GA-1) is a disorder of amino acid metabolism. The usual clinical-onset is an acute encephalopathic crisis in early childhood. There are only a few cases diagnosed in older age groups. MRI features of the disease are well defined. However, there are limited number of studies
PMID 25277297

Japanese Journal

ホモシスチン尿症をともなったメチルマロン酸尿症の1例

山本幹枝,安井建一,渡辺保裕,古和久典,山口清次,中島健二
臨床神経学 55(1), 23-28, 2015
… 症例は18歳女性である．幼少期より易疲労性があり，14歳で腎障害，15歳より精神症状をくりかえし歩行障害が出現した．18歳時に歩行障害が増悪し当科を初診．痙性対麻痺と腓骨神経麻痺をみとめ，尿中ホモシスチン，メチルマロン酸が著増していた．ホモシスチン尿症をともなうメチルマロン酸尿症コバラミンC型（methylmalonic aciduria and homocystinuria, cobalamin C type; …
NAID 130004921292

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

Jellouli Nadege Kammoun,Salem Ikhlass Hadj,Ellouz Emna [他]
Journal of human genetics 59(4), 216-222, 2014-04
NAID 40020043194

Methylmalonic acidemia and hyperglycemia : An unusual association

IMEN Marouani,HANENE Benrhouma,ICHRAF Kraoua,AIDA Rouissi,ILHEM Turki,NAZIHA Kaabachi,NEZIHA Gouider-Khouja
Brain & development 34(2), 113-114, 2012-02-01
NAID 10031049756

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★リンクテーブル★

リンク元	「酸性尿」
拡張検索	「hyperdibasic aminoaciduria type II」「dibasic aminoaciduria type I」「α-ketoadipic aciduria」「methylmalonicaciduria」