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| Genomic newborn screening: ICoNS v1.11 | SLC25A13 |
Lilian Rudd gene: SLC25A13 was added gene: SLC25A13 was added to Genomic newborn screening: ICoNS. Sources: Expert List Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A13 were set to 18367750, 10369257, 19036621, 18392553, 21914561, 11343052, 11343053, 31607264 Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, MIM# 605814 Added comment: Definitive gene disease association by ClinGen 'Moderate' paediatric and adult actionability Symptoms of Citrin deficiency (caused by a deficiency of a mitochondrial shuttle function), usually appear during adulthood and mainly affect the nervous system; some patients previously experienced neonatal intrahepatic cholestatic icterus (OMIM# 605814). Characteristic features include confusion, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening, and are known to be triggered by certain medications, infections, and alcohol intake in people with type II citrullinemia. Intellectual disability is one of the main sequelae. High-protein/high-fat/low-carbohydrate diet, avoid fasting, avoid glucose iv, lactose restriction, medium -chain triglycerides ***Started as soon as diagnosis is made improves behavioural/psychiatric disturbance(s); prevents acute metabolic decompensation; prevents, halts, or slows clinical deterioration; improves neurological manifestations (incl. neuro-imaging); improves seizure/epilepsy control; improves systemic manifestations. Some go on to needing liver transplantation Sources: Expert List |
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