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Fits, pyridoxine, and hyperprolinaemia type II
V Walker1, G A Mills, S A Peters
1Department of Chemical Pathology, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.
Insights
Hyperprolinaemia type II, a rare inherited disorder, can cause childhood seizures. This case suggests vitamin B6 deficiency, potentially caused by a proline metabolite, may be implicated in these seizures.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hyperprolinaemia type II is a rare inherited metabolic disorder.
- It is characterized by elevated proline levels in the blood.
- Seizures are a common clinical manifestation in affected children, often triggered by infections.
Observation:
- A well-nourished child presented with recurrent seizures.
- Diagnostic workup revealed hyperprolinaemia type II and vitamin B6 deficiency.
- The patient's clinical presentation suggested a link between the metabolic disorder and vitamin deficiency.
Findings:
- The study identified a co-occurrence of hyperprolinaemia type II and vitamin B6 deficiency in a child with seizures.
- It is hypothesized that pyrroline-5-carboxylate, a metabolite in hyperprolinaemia type II, inactivates vitamin B6 (pyridoxine).
- This inactivation of vitamin B6 is proposed as the mechanism leading to seizures.
Implications:
- This finding suggests a potential therapeutic target for managing seizures in hyperprolinaemia type II.
- Vitamin B6 supplementation may be beneficial for children diagnosed with this condition.
- Further research is warranted to elucidate the precise biochemical interactions and confirm therapeutic efficacy.
Abstract:
The rare inherited disorder hyperprolinaemia type II presents with fits in childhood, usually precipitated by infection. A diagnosis of hyperprolinaemia type II and vitamin B(6) deficiency was made in a well nourished child with fits. It is thought that pyridoxine deficiency was implicated in her fits and was the result of inactivation of the vitamin by the proline metabolite, pyrroline-5-carboxylate.