Pyridoxal 5′-phosphate-dependent epilepsy is a rare condition. It is a condition that involves seizures beginning soon after birth or, in some cases, before birth. ^[1]

Pyridoxine 5′ phosphate oxidase is an enzyme involved in conversion of dietary vitamin B6 to its active form pyridoxal 5′ phosphate(PLP)^[2]. This active form of vitamin B6 is useful in the metabolism of proteins and neurotransmitters of brain. PNPO gene mutations result in a pyridoxine 5′ phosphate oxidase enzyme that is unable to metabolize pyridoxine and pyridoxamine, leading to a deficiency of PLP^[3]. This results in disturbances in neurotransmitters in thebrain and can cause seizures. This disease is inherited in a autosomal recessive fashion.

Pyridoxamine 5-prime-phosphate oxidase deficiency is a rare disease. Only 14 cases have been reported so far.^[1]

Babies are born in distress and seizures can be noticed within few hours of birth.

• Seizures
• Encephalopathy
• Developmental delay
• Neurological problems
• Learning disorder
• Coma
• Death

A detailed antenatal history and family history for genetic diseases may be helpful in excluding other diagnosis.

Patient may be in distress.

• Staring gaze may be noticed.

• Slow heart rate(Bradycardia) may be seen.

• Seizures
• Confusion

• Low levels of pyidoxal 5′ phosphate.
• Increase in blood lactate levels may be seen.
• Decrease in blood glucose levels.
• Metabolic acidosis may be seen.

EEG findings are^[4]

• Inter ictal burst suppression
• Multifocal independent sharp waves
• Electrical status epilepticus in sleep

A few genetic tests are available^[5]

• Genetic analysis for PNPO gene mutations.
• Sequence analysis for entire codon region.

• Unresponsive to anticonvulsant therapy.
• May respond to pyridoxal phosphate administration.
• Care about airway, breathing and circulation has to be taken care as child has tendency for seizures.
• Monitoring of blood glucose is required as the encephalopathy may worsen with hypoglycemia.