PLP deficiency might be expected to have diverse clinical presentations. However, the neurological phenotype is the predominant phenotype of PNPO deficiency, sometimes co-occurring with non-neurological manifestations such as impaired growth and hypochromic microcytic anemia. Epileptiform convulsions in infants are a common presentation due to defective conversion of glutamic acid into GABA. Other neurological manifestations including irritability and peripheral neuritis arise due to improper production of serotonin, epinephrine, norepinephrine, and γ-aminobutyric acid (GABA). Defects in the synthesis of sphingolipids lead to nerve demyelination, which is manifested as neuropathy.
PNPO