Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect
- Resource Type
- article
- Authors
- Saadet Mercimek-Mahmutoglu; Dawn Corderio; Laura Nagy; Carly Mutch; Melissa Carter; Eduard Struys; Lianna Kyriakopoulou
- Source
- Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 124-128 (2014)
- Subject
- Pyridoxine dependent epilepsy
Lysine restricted diet
Alpha-amino adipic acid semialdehyde dehydrogenase deficiency
Medicine (General)
R5-920
Biology (General)
QH301-705.5
- Language
- English
- ISSN
- 2214-4269
Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding α-aminoadipic-semialdehyde-dehydrogenase enzyme in the lysine catabolic pathway resulting in an accumulation of α-aminoadipic-acid-semialdehyde (α-AASA). We present the one-year treatment outcome of a patient on a lysine-restricted diet. Serial cerebral-spinal-fluid (CSF) α-AASA and CSF pipecolic-acid levels showed decreased levels but did not normalize. He had a normal neurodevelopmental outcome on a lysine-restricted diet. Despite normal CSF and plasma tryptophan levels and normal tryptophan intake, he developed mild CSF serotonin deficiency at one year of therapy. Stricter lysine restriction would be necessary to normalize CSF α-AASA levels, but might increase the risks associated with the diet. Patients are at risk of cerebral serotonin deficiency and should be monitored by CSF neurotransmitter measurements.