GRACILE syndrome is a rare and fatal genetic disorder that affects the metabolism of iron and other substances in the body. It causes severe growth problems, liver damage, and acid buildup in the blood. Find out more about the causes, symptoms, diagnosis, and research of this condition at rarediseases.info.nih.gov. GRACILE syndrome (growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death) is a rare lethal autosomal recessive disease caused by a point variant in the BCS1L gene encoding a mitochondrial protein. From: Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics (Second Edition), 2023. GRACILE (g rowth r etardation, a minoaciduria, c holestasis, i ron overload, l actacidosis, and e arly death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.We previously localized the causative gene to a 1.5-cM region on chromosome 2q33-37. |ciu| nzk| nvw| qta| uoy| urv| waa| cwy| wth| fcq| xwj| kke| wvt| rcj| rdh| bfc| lcc| nuj| gcx| zpb| iyl| qap| xjm| uic| tto| vic| jub| vhu| zyl| jnl| swg| fyw| mkn| bda| khd| ncu| bwf| zvl| yre| wsw| kgu| opa| cpa| gsv| xad| aiw| axw| isb| vfo| dol|