CTdeamineringer

CTdeamineringer, also known as CT deaminase or glutamyluria, is a rare inborn error of metabolism characterized by an impaired metabolism of the amino acid cystine and consequent accumulation of cystine and its metabolites in tissues, organs, and body fluids.

The disorder results from a deficiency in the enzyme cysteine aminotransferase, also referred to as CT deaminase, which catalyzes the conversion of cystine to cysteine sulphinic acid. This enzyme is primarily expressed in liver and requires vitamin B6 as a co-factor for its activity. The deficiency leads to increased levels of cystine, dipeptides of cystine and homocysteine, homocysteine, homocysteic acid, and other metabolites in the body fluids and tissues, causing a range of debilitating and often life-threatening symptoms.

Symptoms of the disorder typically manifest in the first weeks of life and may include discolored skin, hydropic edema, failure to thrive, recession of hairline, behavioral problems, speech and learning difficulties, failure to achieve milestones in development, and impaired wound healing.

There is no cure for CT deamineringer, but a diet with low protein intake and a strict management plan, including vitamin care, can alleviate and in some cases prevent or minimize the symptoms. Some studies have indicated the potential benefit of administering a precursor vitamin or of employing enzymes that can bypass deficiencies.

Electronic databases in the field of medical genetics, therefore, recommend that molecular genetic diagnosis should be sought for persons with suggestive phenotype, they highlight the importance of allocating appropriate dietary treatment, preventive nutritional, medication treatment in these infants.