arginase deficiency

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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/11/19 15:41:50」(JST)

wiki en

[Wiki en表示]

Argininemia
Arginine
Classification and external resources
OMIM	207800
DiseasesDB	29677
eMedicine	ped/132
MeSH	D020162
GeneReviews	Arginase Deficiency

Argininemia, also called arginase deficiency, is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood.

Ammonia, which is formed when proteins are broken down in the body, is toxic if levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

Diagnosis

Argininemia usually becomes evident by about the age of 3. It most often appears as stiffness, especially in the legs, caused by abnormal tensing of the muscles (spasticity). Other symptoms may include slower than normal growth, developmental delay and eventual loss of developmental milestones, intellectual disability, seizures, tremor, and difficulty with balance and coordination (ataxia). Occasionally, high protein meals or stress caused by illness or periods without food (fasting) may cause ammonia to accumulate more quickly in the blood. This rapid increase in ammonia may lead to episodes of irritability, refusal to eat, and vomiting.

In some affected individuals, signs and symptoms of argininemia may be less severe, and may not appear until later in life.

Genetics

Argininemia has an autosomal recessive pattern of inheritance.

Mutations in the ARG1 gene cause argininemia.

Argininemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, making a compound called urea that is excreted by the kidneys.

The ARG1 gene provides instructions for making an enzyme called arginase. This enzyme controls the final step of the urea cycle, which produces urea by removing nitrogen from arginine. In people with arginase deficiency, arginase is damaged or missing, and arginine is not broken down properly. As a result, urea cannot be produced normally, and excess nitrogen accumulates in the blood in the form of ammonia. The accumulation of ammonia and arginine are believed to cause the neurological problems and other signs and symptoms of arginase deficiency. The accumulation of guanidino metabolites also contribute to the neurotoxicity of the disease.

This condition is an autosomal recessive disorder, which means the defective gene is located on an autosome, and two copies of the defective gene are required to inherit the disorder. Both parents of an individual with an autosomal recessive disorder are carriers of one copy of the gene, but usually do not have the disorder.

References

External links

• GeneReviews/NCBI/NIH/UW entry on Urea Cycle Disorders Overview
• GeneReviews/NCBI/NIH/UW entry on Arginase Deficiency or Hyperargininemia
• OMIM entries on Arginase Deficiency
• Argininemia at NLM Genetics Home Reference

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. 尿素サイクル障害：臨床的特徴および診断 urea cycle disorders clinical features and diagnosis
• 2. 尿素サイクル障害：管理 urea cycle disorders management
• 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. 遺伝性痙性対麻痺 hereditary spastic paraplegia
• 5. 脳性麻痺の評価および診断 evaluation and diagnosis of cerebral palsy

English Journal

• Nephron-Specific Deletion of Circadian Clock Gene Bmal1 Alters the Plasma and Renal Metabolome and Impairs Drug Disposition.

• Nikolaeva S1, Ansermet C2, Centeno G2, Pradervand S3, Bize V2, Mordasini D4, Henry H5, Koesters R6, Maillard M7, Bonny O8, Tokonami N9, Firsov D10.
• Journal of the American Society of Nephrology : JASN.J Am Soc Nephrol.2016 Apr 7. pii: ASN.2015091055. [Epub ahead of print]
• The circadian clock controls a wide variety of metabolic and homeostatic processes in a number of tissues, including the kidney. However, the role of the renal circadian clocks remains largely unknown. To address this question, we performed a combined functional, transcriptomic, and metabolomic anal
• PMID 27056296

• Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

• Huemer M1,2,3, Carvalho DR4, Brum JM5, Ünal Ö6,7, Coskun T6, Weisfeld-Adams JD8,9, Schrager NL8, Scholl-Bürgi S10, Schlune A11, Donner MG12, Hersberger M13, Gemperle C13, Riesner B14, Ulmer H15, Häberle J16,17, Karall D10.
• Journal of inherited metabolic disease.J Inherit Metab Dis.2016 Apr 1. [Epub ahead of print]
• BACKGROUND: Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the und
• PMID 27038030

Japanese Journal

• A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations

• Brain & development 33(1), 45-48, 2011-01-01
• NAID 10029560147

• Different Missense Mutations in PDR1 and PDR3 Genes from Clotrimazole-Resistant Sake Yeast are Responsible for Pleiotropic Drug Resistance and Improved Fermentative Activity

• Journal of bioscience and bioengineering 93(2), 221-227, 2002-02-25
• NAID 110002687397

• Application of Mutation Analysis for the Previously Uncertain Cases of Adult-Onset Type II Citrullinemia(CTLN2) and Their Clinical Profiles.

• The Tohoku Journal of Experimental Medicine 198(2), 89-97, 2002
• NAID 130004459209

Related Links

• Arginase Deficiency: Background, Pathophysiology ...

Arginase deficiency is thought to be the least common of the urea cycle disorders. This entity also manifests itself in a fashion somewhat different from other disorders in the group (see Physical).

• arginase deficiency - Genetics Home Reference

Consumer-friendly information about human genetics from the U.S. National Library of Medicine. ... Arginase deficiency is an inherited disorder that causes the amino acid arginine (a building block of proteins) and ammonia to ...

---

★リンクテーブル★

関連記事	「deficiency」

「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