Alpha Amino Adipic Semialdehyde

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Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up to the age of 2 years at onset

Supports a diagnosis of pyridoxine-dependent epilepsy (PDE) due to α-AASA-dehydrogenase deficiency

α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition.
urinary excretion of α-AASA is also increased in molybdenum cofactor and sulfite oxidase deficiencies^[1]

1. ^a short:23147983

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