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Alpha Amino Adipic Semialdehyde
Indications
Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up to the age of 2 years at onset
Interpretation
Supports a diagnosis of pyridoxine-dependent epilepsy (PDE) due to α-AASA-dehydrogenase deficiency[1]
- 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[2]
Discussion