2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Expanding the differential for 2,3-dihydoxy-2-methylbutyric aciduria

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The document discusses the expansion of the differential for 2,3-dihydroxy-2-methylbutyric aciduria, a metabolic disorder. The study conducted a retrospective chart review of cases with this aciduria identified in the Stanford Biochemical Genetics Lab from January 2020 to January 2022. The aim was to identify any additional conditions associated with this aciduria and review clinical and metabolic factors that may shed light on its etiology and significance.<br /><br />The results showed that 2,3-dihydroxy-2-methylbutyric aciduria was identified in approximately 1.5% of urine organic acid samples in the study, suggesting that it may be more common than previously thought. The levels of the aciduria varied over time and were associated with worsening clinical status. It was often seen as part of a larger pattern of mitochondrial dysfunction.<br /><br />Of the 32 unique individuals with 2,3-dihydroxy-2-methylbutyric aciduria, 14 had a variable presence of the aciduria, while 8 had a known condition previously associated with it, such as ECHS1D, MMA, or PDH. 19 individuals had a condition not previously associated with the aciduria.<br /><br />The document discusses the variability of the aciduria levels between conditions and presents chromatograms and peak areas to support the findings. It emphasizes the need for further studies to understand the metabolic origin and clinical significance of 2,3-dihydroxy-2-methylbutyric aciduria.<br /><br />Overall, the study expands the understanding of 2,3-dihydroxy-2-methylbutyric aciduria, its prevalence, associated conditions, and its potential role as a marker for mitochondrial dysfunction.

Asset Subtitle

Presenting Author - Annie D. Niehaus, MD; Co-Author - Shawn Tahata, MD; Co-Author - Kristina P. Cusmano-Ozog; Co-Author - Tina M. Cowan, PhD;

Meta Tag

Biochemical genetics

Metabolic Disorder

Mitochondria

Co-Author Shawn Tahata, MD

Co-Author Kristina P. Cusmano-Ozog

Co-Author Tina M. Cowan, PhD

Presenting Author Annie D. Niehaus, MD

Keywords

2,3-dihydroxy-2-methylbutyric aciduria

metabolic disorder

retrospective chart review

associated conditions

urine organic acid samples

mitochondrial dysfunction

unique individuals

known condition

metabolic origin

clinical significance