Citrullinemia

(Redirected from Citrullinemia I)
Jump to navigation Jump to search

WikiDoc Resources for Citrullinemia

Articles

Most recent articles on Citrullinemia

Most cited articles on Citrullinemia

Review articles on Citrullinemia

Articles on Citrullinemia in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Citrullinemia

Images of Citrullinemia

Photos of Citrullinemia

Podcasts & MP3s on Citrullinemia

Videos on Citrullinemia

Evidence Based Medicine

Cochrane Collaboration on Citrullinemia

Bandolier on Citrullinemia

TRIP on Citrullinemia

Clinical Trials

Ongoing Trials on Citrullinemia at Clinical Trials.gov

Trial results on Citrullinemia

Clinical Trials on Citrullinemia at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Citrullinemia

NICE Guidance on Citrullinemia

NHS PRODIGY Guidance

FDA on Citrullinemia

CDC on Citrullinemia

Books

Books on Citrullinemia

News

Citrullinemia in the news

Be alerted to news on Citrullinemia

News trends on Citrullinemia

Commentary

Blogs on Citrullinemia

Definitions

Definitions of Citrullinemia

Patient Resources / Community

Patient resources on Citrullinemia

Discussion groups on Citrullinemia

Patient Handouts on Citrullinemia

Directions to Hospitals Treating Citrullinemia

Risk calculators and risk factors for Citrullinemia

Healthcare Provider Resources

Symptoms of Citrullinemia

Causes & Risk Factors for Citrullinemia

Diagnostic studies for Citrullinemia

Treatment of Citrullinemia

Continuing Medical Education (CME)

CME Programs on Citrullinemia

International

Citrullinemia en Espanol

Citrullinemia en Francais

Business

Citrullinemia in the Marketplace

Patents on Citrullinemia

Experimental / Informatics

List of terms related to Citrullinemia

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

Citrullinemia
Citrulline
ICD-10 E72.2
ICD-9 270.6
OMIM 215700 605814 603471
DiseasesDB 29676 Template:DiseasesDB2
eMedicine ped/406 
MeSH C10.228.140.163.100.175

Overview

Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two forms of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in the liver. These reactions process excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.

Both types of citrullinemia are inherited in an autosomal recessive pattern.

Historical Perspective

Classification

Types

Type I

Type I citrullinemia (Online Mendelian Inheritance in Man (OMIM) 215700, also known as classic citrullinemia) usually becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they develop a lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. These medical problems can be life-threatening in many cases. Less commonly, a milder form of type I citrullinemia can occur in childhood or adulthood. Some people with gene mutations that cause type I citrullinemia never experience signs and symptoms of the disorder.

Type I citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 births worldwide. Mutations in the ASS gene cause type I citrullinemia. The enzyme made by this gene, argininosuccinate synthetase (EC 6.3.4.5), is responsible for one step of the urea cycle. Mutations in the ASS gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen, in the form of ammonia, and other byproducts of the urea cycle accumulate in the bloodstream, leading to the characteristic features of type I citrullinemia.

Type II

The signs and symptoms of type II citrullinemia (Online Mendelian Inheritance in Man (OMIM) 605814 and Online Mendelian Inheritance in Man (OMIM) 603471) usually appear during adulthood and mainly affect the nervous system. Characteristic features include confusion, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening, and are known to be triggered by certain medications, infections, and alcohol intake in people with type II citrullinemia.

Type II citrullinemia may also develop in people who had a liver disorder called neonatal intrahepatic cholestasis during infancy. This condition blocks the flow of bile and prevents the body from processing certain nutrients properly. In many cases, the signs and symptoms resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult type II citrullinemia.

Type II citrullinemia is primarily found in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type II has also been reported in people from East Asian and Middle Eastern populations. Mutations in the SLC25A13 gene are responsible for type II citrullinemia. This gene makes a protein called citrin, which normally shuttles certain molecules in and out of mitochondria. These molecules are essential for the urea cycle and are also involved in making proteins and nucleotides. Mutations in the SLC25A13 mutation typically prevent the production of any functional citrin, which inhibits the urea cycle and disrupts the production of proteins and nucleotides. The resulting buildup of ammonia and other toxic substances leads to the signs and symptoms of type II citrullinemia. Researchers have determined that many infants with neonatal intrahepatic cholestasis have the same mutations in the SLC25A13 gene as adults with type II citrullinemia.

Pathophysiology

Causes

Differentiating Citrullinemia from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

See also

External links

References

Template:Endocrine, nutritional and metabolic pathology


Template:WikiDoc Sources