Fig. 1.

Abdominal U/S examination/U/S of liver (three patients with HMGCL deficiency) showing normal liver, fatty liver, and liver with gallstones. ( A ) U/S of liver = normal: the visualized parts of the liver are homogeneous without suspicious lesions or echogenicity. ( B ) Fatty liver: 18-year-old man, the liver is normal in size with increased parenchymal echogenicity in keeping with fatty infiltration, no focal lesions. ( C ) U/S of liver shows gallstones: 19-year-old woman, the liver demonstrates homogeneous echotexture with no suspicious focal hepatic lesions. No biliary dilatation. There are multiple gallstones, no signs of cholecystitis. HMGCL, 3-hydroxy-3-methylglutaryl-coenzyme-A lyase; U/S, ultrasound.