P037: Masked by chronic substance abuse, and blindsided by a multi-enzyme complex deficiency: An intriguing case report

• Zinandré Stander,
• Jessica Kraker,
• Silvia Tortorelli,
• Devin Oglesbee,
• John Chen,
• Lisa Schimmenti

Affiliations

Zinandré Stander

Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN

Jessica Kraker

Department of Ophthalmology, Mayo Clinic, Rochester, MN

Silvia Tortorelli

Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN

Devin Oglesbee

Department of Laboratory Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic, Rochester, MN

John Chen

Department of Neurology, Mayo Clinic, Rochester, MN; and Department of Ophthalmology, Mayo Clinic, Rochester, MN

Lisa Schimmenti

Department of Clinical Genomics, Biochemistry and Molecular Biology, Ophthalmology and Otorhinolaryngology, Mayo Clinic, Rochester, MN