IEMbase 0018: SLC25A13-related citrin deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 18 |
| Nosology | 1.1.08.01 |
| Gene | SLC25A13 |
| External IDs | OMIM:605814; OMIM:603471 |
| Generated mapping | MAPPED by alias_exact:citrin deficiency |
| Candidate DisMech targets | Citrin_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase captures the age-dependent citrin-deficiency spectrum. The adult CTLN2 signal includes encephalopathy and coma, while neonatal/infantile disease includes cholestasis, jaundice, liver dysfunction, hepatomegaly, impaired coagulation, anemia, failure to thrive, growth retardation, and hypoproteinemia. The record also includes low-carbohydrate/high-protein/high-fat food preference, neuropsychiatric manifestations, consciousness disturbance, fatigue, pancreatitis, hepatic steatosis, and hepatocellular carcinoma/hepatoblastoma signals.
The biochemical profile includes high citrulline, variably high ammonia, high urinary galactose, increased neonatal/infantile amino acids, elevated GGT, bilirubin, AFP, altered albumin/total protein, and normal succinylacetone. Treatments include avoiding fasting, avoiding IV glucose, high-protein/high-fat low-carbohydrate diet, lactose restriction, fat-soluble vitamins, MCT, hemodialysis, peritoneal dialysis, and liver transplantation.
DisMech phenotype coverage
The generated mapping is correct. DisMech covers the main named stages: neonatal intrahepatic cholestasis, failure to thrive and dyslipidemia, and adult-onset type II citrullinemia. Phenotypes include neonatal cholestasis, hyperammonemia, elevated plasma citrulline, encephalopathy, failure to thrive, hepatomegaly, dyslipidemia, hepatic steatosis, jaundice, conjugated hyperbilirubinemia, elevated transaminases, abnormal food preference, low birth weight, intellectual disability, pancreatitis, hypoglycemia, and seizures. Biochemical coverage includes citrulline, ammonia, conjugated bilirubin, plasma glutamine, and transaminases. Treatments include MCT with low-carbohydrate diet, avoidance of fructose and glycerol infusions, liver transplantation, acute hyperammonemia supportive care, and pharmacotherapy for hyperammonemia.
Concordance and completeness
Judgement: correct mapping and strong clinical concordance. IEMbase is richer for neonatal laboratory breadth and concrete diet/avoidance details.
IEMbase adds anemia, impaired coagulation, albumin/total protein reductions, urinary galactose, GGT/AFP detail, lactose restriction, fat-soluble vitamins, fasting avoidance, IV-glucose avoidance, and dialysis modalities. DisMech is stronger mechanistically for malate-aspartate shuttle dysfunction, carbohydrate toxicity, de novo lipogenesis, and mitochondrial aspartate/glutamate transport.
Curation actions
- Keep the generated mapping.
- Consider evidence-backed additions for anemia/coagulation abnormalities, galactose/GGT/AFP markers, and fasting/IV-glucose avoidance.
- Consider whether dialysis needs explicit treatment representation for adult hyperammonemic crises.