Arginase and citrin deficiencies. Medical search. Frequent questions

Citrullinemia type I, a urea cycle defect caused by a deficiency of argininosuccinate synthetase, was diagnosed on the basis of plasma amino acids and was confirmed by molecular testing. (nucdf.org)

Thus, age of onset is as unpredictable in citrullinemia as in ornithine transcarbamylase (OTC) deficiency. (medscape.com)
Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a post-neonatal-onset (also known as "late-onset" or partial deficiency) disease in males and females. (beds.ac.uk)

ASA synthase deficiency leads to accumulation of citrulline, a condition known as citrullinemia. (medscape.com)

Urea cycle disorders (UCDs) result from inherited deficiencies in any one of the six enzymes or two transporters of the urea cycle pathway (CPS1, OTC, ASS1, ASL, ARG1, NAGS, ORNT1, or citrin). (nih.gov)
Severe deficiency or total absence of activity of any of the first four enzymes in the pathway (CPS1, OTC, ASS1, and ASL) or the cofactor producer (NAGS) results in the accumulation of ammonia and other precursor metabolites during the first few days of life. (nih.gov)
Patients with complete CPS1 deficiency rapidly develop hyperammonemia soon after birth. (nucdf.org)

Males with severe neonatal-onset OTC deficiency are asymptomatic at birth but become symptomatic from hyperammonemia in the first week of life, most often on day two to three of life, and are usually catastrophically ill by the time they come to medical attention. (beds.ac.uk)

Patients with complete OTC deficiency (the most severe type of this disorder) rapidly develop high levels of ammonia in the blood soon after birth and develop symptoms any time before one week of age. (nucdf.org)
Hence, the majority of patients with severe presentations of OTC deficiency are males. (nucdf.org)

OTC deficiency is typically suspected based on symptoms and biochemical tests, but a definite diagnosis requires genetic testing or enzyme testing of a liver biopsy. (nucdf.org)

The relationship of the classic disorder citrullinemia to neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and the adult-onset form of citrin deficiency (both of which manifest citrullinemia) remains unclear because the same gene is implicated in both the latter conditions and the mutations do not seem unique to each. (medscape.com)
The gene loci for classic citrullinemia and for citrin deficiency reside on separate chromosomes. (medscape.com)
The citrin gene (SLC25A13) codes for a mitochondrial aspartate-glutamate carrier. (medscape.com)

Human muscle biopsies and mouse models of NF1 deficiency in muscle show intramyocellular lipid accumulation, and preclinical data have indicated that L-carnitine supplementation can ameliorate this phenotype. (bvsalud.org)

Males and heterozygous females with post-neonatal-onset (partial) OTC deficiency can present from infancy to later childhood, adolescence, or adulthood. (beds.ac.uk)

Patients with partial OTC deficiency (milder type of OTC) can present at any time of life with a triggering event such as an infection or other stress. (nucdf.org)
Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of stress. (beds.ac.uk)

One mechanism contributing to development of fatigue might involve abnormal adenosine triphosphate synthesis that is caused by carnitine deficiency. (bvsalud.org)

For all individuals with OTC deficiency, typical neuropsychological complications include developmental delay, learning disabilities, intellectual disability, attention-deficit/hyperactivity disorder, and executive function deficits. (beds.ac.uk)