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Other diseases that may appear similar to CTLN1 include the organic acidemias and citrullinemia type II. To diagnose CTLN1, a blood test for citrulline and ammonia levels can indicate the correct diagnosis; high levels of both are indicative of this disorder. Newborns are routinely screened for CTLN1 at birth.
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. [ 1 ] Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes.
An accumulation of ammonia during the first few days of life leads to poor feeding, vomiting, seizures, and the other signs and symptoms of type I citrullinemia. Treatment for this defect includes a low-protein diet and dietary supplementation with arginine and phenylacetate. Arginine allows the urea cycle to complete itself, creating the ...
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline.
E.g., reduction of dietary protein remains a mainstay of treatment for phenylketonuria and other amino acid disorders; Dietary supplementation or replacement E.g., oral ingestion of cornstarch several times a day helps prevent people with glycogen storage diseases from becoming seriously hypoglycemic. Medications
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 ...
Carbamoyl phosphate synthetase I deficiency has an autosomal recessive pattern of inheritance.. CPS I deficiency is inherited in an autosomal recessive manner. [1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Congenital errors of amino acid metabolism are inherited metabolic disorders that impair the synthesis and degradation of amino acids. [1] This means that the body has trouble breaking down and building some amino acids, the building blocks of protein in the body. [2]