Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers

• Main Authors: Annie D. Niehaus MD (Author), Holly Cooper MD (Author), Chung U. Lee MD (Author)
• Format: Book
• Published: SAGE Publishing, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Here, we report an individual, eventually diagnosed with HMG-CoA synthase deficiency, who presented with a cyclic vomiting phenotype. HMG-CoA synthase deficiency is a rare disorder affecting ketone body synthesis in which affected individuals typically present at a young age with hypoketotic hypogly...