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A report of PDE-ALDH7A1 shows how early metabolic lab abnormalities can mimic other disorders, and how targeted biomarkers can quickly point back to a treatable B6-pathway epilepsy.
Many families learn that PDE often presents as hard-to-control neonatal seizures that respond to pyridoxine. What is less well known is that some babies can also show metabolic instability that pushes clinicians toward other diagnoses, including suspected mitochondrial disease.
In this case, the baby developed early seizures along with acidosis and elevated lactate, plus other severe lab abnormalities (including hyperammonemia and rhabdomyolysis). Genetic testing identified ALDH7A1 variants (one previously reported and one initially considered a variant of uncertain significance), and pyridoxine was started. Importantly, the pre-treatment biochemical profile supported PDE-ALDH7A1 using characteristic markers.
The deeper science is the biomarker triad clinicians look for in PDE-ALDH7A1: elevated alpha-AASA, elevated pipecolic acid (pipecolate), and elevated 6-oxo-pipecolate (oxo-PIP), often alongside related lysine-pathway signatures. These metabolites reflect the lysine catabolism bottleneck and help distinguish PDE from look-alike conditions when the early clinical picture is confusing.
Why this matters
It’s a reminder that PDE-ALDH7A1 can present with “extra” metabolic red flags; having PDE biomarkers in the diagnostic toolkit can shorten time to effective treatment.
Limitations
This is a single patient report. It illustrates diagnostic complexity but does not predict how often these lab abnormalities occur across all PDE patients.
Sources
- “Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect.” Molecular Genetics and Metabolism Reports (2025). DOI: 10.1016/j.ymgmr.2025.101260 (PubMed: 41142850; Free full text: PMC12549706)
Safety note: This summary is educational and not medical advice.
