IllnessZitrullinämie Typ I, Differentialdiagnose

NGS +

Citrullinemia represents a disorder of the urea cycle and occurs in 2 types due to mutations in different genes. Type I (classic) citrullinemia usually occurs in the first few days of life. Affected infants usually appear normal at birth but soon suffer from progressive lethargy, poor feeding, vomiting, seizures and loss of consciousness. The health problems associated with type I citrullinemia are life-threatening in many cases, including severe liver problems. A milder form of type I citrullinemia develops later in childhood or adulthood. This later-onset form is associated with severe headaches, scotomas, ataxia and lethargy. In rare cases, symptoms of the disease never occur in these mutation carriers. Citrullinemia type II primarily affects the nervous system, causing confusion, agitation, memory loss, abnormal behavior, seizures and coma. Symptoms typically occur in adults and are triggered by medications, infections, surgical procedures and alcohol, they can also be life-threatening. Type II citrullinemia in adults can also occur in people who had a liver disease, neonatal intrahepatic cholestasis, due to citrine deficiency (NICCD) as infants. Mutations in the ASS1 gene cause type I citrullinemia. Mutations in the SLC25A13 gene are responsible for type II citrullinemia and adult-onset NICCD. Both types are inherited in an autosomal recessive manner. Since the molecular genetic diagnostic yield is not really known, a negative DNA test result cannot exclude the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1458/

https://www.ncbi.nlm.nih.gov/books/NBK1181/

https://www.ncbi.nlm.nih.gov/books/NBK1217/

• Alias: ASS-Mangel
• Alias: Argininosuccinat-Synthase-Mangel
• Alias: Citrullinämie Typ I
• Alias: Klassische Zitrullinämie
• Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
• Argininosuccinic aciduria (ASL)
• Carbamoylphosphate synthetase I deficiency (CPS1)
• Citrullinemia (ASS1)
• Citrullinemia, adult-onset type II (SLC25A13)
• Citrullinemia, type II, neonatal-onset (SLC25A13)
• Dihydrolipoamide dehydrogenase deficiency (DLD)
• Ornithine transcarbamylase deficiency (OTC)
• Pyruvate carboxylase deficiency (PC)