GRACILE syndrome

Introduction

Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, & Early death

Genetics

• recessively inherited
• caused by mutation in the BCS1L gene
• phenotype differs from tubulopathy, encephalopathy, & liver failure due to mitochondrial complex III deficiency

Clinical manifestations

• fetal growth retardation
• cholestasis

Laboratory

• lactate in plasma: lactic acidosis
• amino acids in urine: aminoaciduria
• serum iron: excessive high

Complications

• lethal disease

More general terms

• syndrome
• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/603358