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| Neurotransmitter disorders v1.4 | PNPO |
Zornitza Stark gene: PNPO was added gene: PNPO was added to Neurotransmitter disorders. Sources: Expert list Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Review for gene: PNPO was set to GREEN Added comment: Well established gene-disease association. Pyridoxal 5′-phosphate is a co-factor in the synthesis of dopamine and serotonin. Multiple CSF abnormalities reported including decreased HVA and 5HIAA. Treatable disorder, typically manifesting as neonatal seizures. Sources: Expert list |
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