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Renal tubulopathy-encephalopathy-liver failure syndrome
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.
ORPHA:254902Classification level: Disorder
- Synonym(s): -
- Prevalence: -
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E88.8
- OMIM: 124000
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
The prevalence is unknown. Several cases have been described in Turkey, Spain, New Zealand and Australia.
Disease presentation is variable. Most of the characteristics of GRACILE syndrome are present (fetal growth restriction, proximal tubulopathy and hepatopathy, as well as lactic acidosis) but they are often less severe. Signs of disturbances in iron metabolism have been described, such as increased serum ferritin levels, but it is unclear whether severe liver iron overload is present. Most infants die during the neonatal period. In those who survive, encephalopathy and psychiatric disorders have been described.
This disease is due to different mutations in the BCS1L gene (2q35) encoding a protein essential in the assembly of complex III in the mitochondrial respiratory chain.
Renal tubulopathy - encephalopathy - liver failure is inherited autosomal recessively and genetic counseling is possible.