Arginemia

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Arginemia Classification and external resources
Image:L-arginine-skeletal-(tall).png
Arginine
OMIM	207800
DiseasesDB	29677
eMedicine	ped/132
MeSH	D020162

WikiDoc Resources for Arginemia
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Evidence Based Medicine
Cochrane Collaboration on Arginemia Bandolier on Arginemia TRIP on Arginemia
Clinical Trials
Ongoing Trials on Arginemia at Clinical Trials.gov Trial results on Arginemia Clinical Trials on Arginemia at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Arginemia NICE Guidance on Arginemia NHS PRODIGY Guidance FDA on Arginemia CDC on Arginemia
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Blogs on Arginemia
Definitions
Definitions of Arginemia
Patient Resources / Community
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Healthcare Provider Resources
Symptoms of Arginemia Causes & Risk Factors for Arginemia Diagnostic studies for Arginemia Treatment of Arginemia
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Arginemia (also called arginase deficiency) is a congenital disorder where arginase deficiency causes a high level 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.

Arginase deficiency 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, mental retardation, 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 arginase deficiency may be less severe, and may not appear until later in life.

Mutations in the ARG1 gene cause arginase deficiency. Arginase deficiency 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, to make 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.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

References

• Overview of condition at NLM Genetics Home Reference

v • d • e WikiDoc Research Resources for Arginemia
Articles on Arginemia	Most recent articles on Arginemia • Most cited articles on Arginemia • Review articles on Arginemia • Articles on Arginemia in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Arginemia	Powerpoint slides on Arginemia • Images of Arginemia • Photos of Arginemia • Podcasts & MP3s on Arginemia • Videos on Arginemia
Evidence Based Medicine Regarding Arginemia	Cochrane Collaboration on Arginemia • Bandolier on Arginemia • TRIP on Arginemia
Cost Effectiveness of Arginemia	Cost Effectiveness of Arginemia
Clinical Trials Involving Arginemia	Ongoing Trials on Arginemia at Clinical Trials.gov • Trial results on Arginemia • Clinical Trials on Arginemia at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Arginemia	US National Guidelines Clearinghouse on Arginemia • NICE Guidance on Arginemia • NHS PRODIGY Guidance • FDA on Arginemia • CDC on Arginemia
Textbook Information on Arginemia	Books and Textbook Information on Arginemia
Pharmacology Resources on Arginemia	Dosing of Arginemia • Drug interactions with Arginemia • Side effects of Arginemia • Allergic reactions to Arginemia • Overdose information on Arginemia • Carcinogenicity information on Arginemia • Arginemia in pregnancy • Pharmacokinetics of Arginemia •
Genetics, Pharmacogenomics, and Proteinomics of Arginemia	Genetics of Arginemia • Pharmacogenomics of Arginemia • Proteomics of Arginemia
Newstories on Arginemia	Arginemia in the news • Be alerted to news on Arginemia • News trends on Arginemia
Commentary on Arginemia	Blogs on Arginemia
Patient Resources on Arginemia	Patient resources on Arginemia • Discussion groups on Arginemia • Patient Handouts on Arginemia • Directions to Hospitals Treating Arginemia • Risk calculators and risk factors for Arginemia
Healthcare Provider Resources on Arginemia	Symptoms of Arginemia • Causes & Risk Factors for Arginemia • Diagnostic studies for Arginemia • Treatment of Arginemia
Continuing Medical Education (CME) Programs on Arginemia	CME Programs on Arginemia
International Resources on Arginemia	Arginemia en Espanol • Arginemia en Francais
Business Resources on Arginemia	Arginemia in the Marketplace • Patents on Arginemia
Informatics Resources on Arginemia	List of terms related to Arginemia

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