Carnitine palmitoyltransferase II deficiency in a prenatal case with polycystic kidney disease-like phenotype

MeSH terms

• Carnitine O-Palmitoyltransferase / deficiency*
• Carnitine O-Palmitoyltransferase / genetics*
• Fatty Acids / genetics
• Fatty Acids / metabolism
• Female
• Humans
• Lipid Peroxidation / genetics
• Male
• Metabolism, Inborn Errors / diagnosis*
• Metabolism, Inborn Errors / genetics
• Metabolism, Inborn Errors / pathology
• Phenotype
• Polycystic Kidney Diseases / diagnosis*
• Polycystic Kidney Diseases / genetics
• Polycystic Kidney Diseases / pathology
• Pregnancy
• Prenatal Diagnosis*