Fits, pyridoxine, and hyperprolinaemia type II

The rare inherited disorder hyperprolinaemia type II presents with fits in childhood, usually precipitated by infection. A diagnosis of hyperprolinaemia type II and vitamin B6 deficiency was made in a well nourished child with fits. It is thought that pyridoxine deficiency was implicated in her fits...

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Bibliographic Details
Published in:Archives of disease in childhood 2000-03, Vol.82 (3), p.236-237
Main Authors: Walker, Valerie, Mills, Graham A, Peters, Sheila A, Merton, W Louis
Format: Article
Language:English
Subjects:
Aminoacid disorders
Biological and medical sciences
Body Weight
Chromatography
Deoxyribonucleic acid
Developmental Delays
DNA
Electroencephalography
Errors of metabolism
Female
fits
General and Specialist Paediatrics
Genes, Recessive
Humans
hyperprolinaemia type II
Inactivation
Infant
Learning Problems
Medical sciences
Metabolic diseases
Metabolic Diseases - enzymology
Metabolic Diseases - genetics
Metabolites
Nutrition
Phosphates
Physiology
Plasma
Proline - genetics
Proline - metabolism
pyridoxine
Pyrroline Carboxylate Reductases - deficiency
Pyrroline Carboxylate Reductases - genetics
pyrroline-5-carboxylate
Scientific Concepts
Scientific imaging
Seizures - etiology
Urine
Vitamin B 6 Deficiency - etiology
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Description
Summary:The rare inherited disorder hyperprolinaemia type II presents with fits in childhood, usually precipitated by infection. A diagnosis of hyperprolinaemia type II and vitamin B6 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.
ISSN:0003-9888
1468-2044
DOI:10.1136/adc.82.3.236