BIOMAT Database Logo BIOMAT Database Logo

Lysinuric protein intolerance presenting deficiency of argininosuccinate synthetase. 1992

N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
Department of Internal Medicine II, Shimane Medical University, Izumo, Japan.

A 35-yr-old woman, who suffered from relapsing coma with hyperammonemia for 17 yr, was diagnosed to have lysinuric protein intolerance (LPI). Increased urinary dibasic amino acids (lysine, arginine and ornithine) and impaired absorption of orally administered lysine and arginine proved the defects of renal tubular and intestinal transport of dibasic amino acids. These defects are the primary cause of impaired urea cycle metabolism in LPI. Further, the level of argininosuccinate synthetase (ASS), a urea cycle enzyme, was analyzed and it was found to be below the normal level. This is the second reported case of LPI presenting ASS deficiency.

UI MeSH Term Description Entries
D008099 Liver A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances. Livers
D008239 Lysine An essential amino acid. It is often added to animal feed. Enisyl,L-Lysine,Lysine Acetate,Lysine Hydrochloride,Acetate, Lysine,L Lysine
D004044 Dietary Proteins Proteins obtained from foods. They are the main source of the ESSENTIAL AMINO ACIDS. Proteins, Dietary,Dietary Protein,Protein, Dietary
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000592 Amino Acid Metabolism, Inborn Errors Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy
D000596 Amino Acids Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. Amino Acid,Acid, Amino,Acids, Amino
D000641 Ammonia A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. Note that the aqueous form of ammonia is referred to as AMMONIUM HYDROXIDE.
D001124 Argininosuccinate Synthase An enzyme of the urea cycle that catalyzes the formation of argininosuccinic acid from citrulline and aspartic acid in the presence of ATP. Absence or deficiency of this enzyme causes the metabolic disease CITRULLINEMIA in humans. EC 6.3.4.5. Argininosuccinate Synthetase,Synthase, Argininosuccinate,Synthetase, Argininosuccinate

Related Publications

N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
[A case of combined lysinuric protein intolerance and hypoactivity of argininosuccinate synthetase (citrullinemia)].
May 1988, Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine,
N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
Lysinuric Protein Intolerance Presenting with Multiple Fractures.
January 2014, Molecular genetics and metabolism reports,
N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.
August 2016, Indian pediatrics,
N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
[Argininosuccinate synthetase deficiency].
January 1998, Ryoikibetsu shokogun shirizu,
N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
[Lysinuric protein intolerance].
November 1983, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde,
N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
Lysinuric protein intolerance.
January 1974, Birth defects original article series,
N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
Lysinuric protein intolerance.
September 1980, Lancet (London, England),
N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
Lysinuric protein intolerance.
November 1980, Lancet (London, England),
N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
Lysinuric protein intolerance.
May 1977, Annals of clinical biochemistry,
N Ono, and K Kishida, and K Tokumoto, and M Watanabe, and Y Shimada, and J Yoshinaga, and M Fujii
Lysinuric protein intolerance.
August 1975, The American journal of medicine,
Copied contents to your clipboard!