Argininosuccinic aciduria

Jump to navigation Jump to search

WikiDoc Resources for Argininosuccinic aciduria

Articles

Most recent articles on Argininosuccinic aciduria

Most cited articles on Argininosuccinic aciduria

Review articles on Argininosuccinic aciduria

Articles on Argininosuccinic aciduria in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Argininosuccinic aciduria

Images of Argininosuccinic aciduria

Photos of Argininosuccinic aciduria

Podcasts & MP3s on Argininosuccinic aciduria

Videos on Argininosuccinic aciduria

Evidence Based Medicine

Cochrane Collaboration on Argininosuccinic aciduria

Bandolier on Argininosuccinic aciduria

TRIP on Argininosuccinic aciduria

Clinical Trials

Ongoing Trials on Argininosuccinic aciduria at Clinical Trials.gov

Trial results on Argininosuccinic aciduria

Clinical Trials on Argininosuccinic aciduria at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Argininosuccinic aciduria

NICE Guidance on Argininosuccinic aciduria

NHS PRODIGY Guidance

FDA on Argininosuccinic aciduria

CDC on Argininosuccinic aciduria

Books

Books on Argininosuccinic aciduria

News

Argininosuccinic aciduria in the news

Be alerted to news on Argininosuccinic aciduria

News trends on Argininosuccinic aciduria

Commentary

Blogs on Argininosuccinic aciduria

Definitions

Definitions of Argininosuccinic aciduria

Patient Resources / Community

Patient resources on Argininosuccinic aciduria

Discussion groups on Argininosuccinic aciduria

Patient Handouts on Argininosuccinic aciduria

Directions to Hospitals Treating Argininosuccinic aciduria

Risk calculators and risk factors for Argininosuccinic aciduria

Healthcare Provider Resources

Symptoms of Argininosuccinic aciduria

Causes & Risk Factors for Argininosuccinic aciduria

Diagnostic studies for Argininosuccinic aciduria

Treatment of Argininosuccinic aciduria

Continuing Medical Education (CME)

CME Programs on Argininosuccinic aciduria

International

Argininosuccinic aciduria en Espanol

Argininosuccinic aciduria en Francais

Business

Argininosuccinic aciduria in the Marketplace

Patents on Argininosuccinic aciduria

Experimental / Informatics

List of terms related to Argininosuccinic aciduria

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Argininosuccinic aciduria
argininosuccinate
ICD-10 E72.2
ICD-9 270.6
OMIM 207900

Overview

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia is toxic, especially to the nervous system, and argininosuccinic aciduria usually becomes evident in the first few days of life.

An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly-controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and mental retardation. Progressive liver damage, skin lesions, and brittle hair may also be seen. Immediate treatment and lifelong management (following a strict diet and using appropriate supplements) may prevent many of these complications.

Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress.

Historical Perspective

Classification

Pathophysiology

Genetics

Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions in the cells of the liver. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.

In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia.

Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver.

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.

Causes

Differentiating Argininosuccinic aciduria from Other Diseases

Epidemiology and Demographics

Argininosuccinic aciduria occurs in approximately 1 in 70,000 live births.

See Sources

  • Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG (2002). "Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families". J Inherit Metab Dis. 25 (5): 399–410. PMID 12408190
  • Lee B, Goss J (2001). "Long-term correction of urea cycle disorders". J Pediatr. 138 (1 Suppl): S62–71. PMID 11148551
  • Reid Sutton V, Pan Y, Davis EC, Craigen WJ (2003). "A mouse model of argininosuccinic aciduria: biochemical characterization". Mol Genet Metab. 78 (1): 11–6. PMID 12559843
  • Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B (2004). "Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism". J Nutr. 134 (10 Suppl): 2775S–2782S, discussion 2796S-2797S. PMID 15465784 Full text
  • Stadler S, Gempel K, Bieger I, Pontz BF, Gerbitz KD, Bauer MF, Hofmann S (2001). "Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry". J Inherit Metab Dis. 24 (3): 370–8. PMID 11486903
  • Wilcken B, Smith A, Brown DA (1980). "Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one million babies". J Pediatr. 97 (3): 492–7. PMID 7411317

External links

References

Template:Metabolic pathology


Template:WikiDoc Sources