April 2019 — Biochemical Genetics

A 7-month-old male presented in the ED with head injury and seizure concerns. Bilateral subdural hemorrhages of different ages and multilayered intraretinal hemorrhages in both eyes were found, without bone fractures or cervical spine ligamentous injury. In addition, the patient had a rapid progression of macrocephaly. Analysis of urine organic acids revealed 2-hydroxyglutaric acid (2HGA) and 2-hydroxyglutaric lactone (2HGL) markedly elevated (Figure 1). The presence of either the D-form or the L-form of 2HGA was analyzed (Figure 2).

Figure 1
Figure 2

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Photo of Ester Perales Clemente, Ph.D. Ester Perales Clemente, Ph.D.
Fellow, Clinical Biochemical Genetics
Mayo Clinic
Photo of Piero Rinaldo, M.D., Ph.D. Piero Rinaldo, M.D., Ph.D.
Consultant, Lab Genetics and Genomics
Mayo Clinic
Professor of Laboratory Medicine and Pathology
Mayo Clinic College of Medicine
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