Pyridoxamine 5-prime-phosphate oxidase deficiency

Pyridoxamine 5-prime-phosphate oxidase deficiency
ICD-10	G40.8
OMIM	610090

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: PNPO deficiency; PNPO-related neonatal epileptic encephalopathy; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxine-5'-phosphate oxidase deficiency

Overview

Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described so far. It is a condition that involves seizures beginning soon after birth or, in some cases, before birth.

Pathophysiology

Genetics

Pyridoxine 5' phosphate oxidase is an enzyme involved in conversion of dietary B6 to its active form pyridoxal 5' phosphate(PLP). 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. This results in disturbances in neurotransmitters in the brain and can cause seizures. This disease is inherited in a autosomal recessive fashion.

Epidemiology and Demographics

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

Natural History, Complications and Prognosis

Babies are born with fetal distress and seizures within few hours of birth.

Complications

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