Pyridoxine-dependent epilepsy owing to antiquitin deficiency - mutation in the ALDH7A1 gene

• Published in: Paediatrics and international child health Vol. 33; no. 2; pp. 113 - 115
• Main Authors: Jagadeesh, Sujatha, Suresh, Beena, Murugan, V, Suresh, S, Salomans, G S, Struys, E A, Jacobs, C
• Format: Journal Article
• Language: English
• Published: London Taylor & Francis 01.05.2013; Maney
• Subjects: Aldehyde Dehydrogenase - deficiency; Aldehyde Dehydrogenase - genetics; Antiquitin; Biological and medical sciences; Child; Epilepsy - diagnosis; Epilepsy - genetics; Female; General aspects; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Medical sciences; Mutation; Nervous system (semeiology, syndromes); Neurology; Pyridoxine-dependent epilepsy; Pediatrics; Nervous system diseases; Pyridoxine-dependent epilepsy; Deficiency; Epilepsy; Central nervous system disease; Tropical medicine; Pyridoxine; Mutation; Cerebral disorder; Antiquitin
• ISSN: 2046-9047; 2046-9055
• DOI: 10.1179/2046905512Y.0000000028

Pyridoxine-dependent epilepsy (PDE) is an inborn error of metabolism resulting from antiquitin deficiency. There is marked elevation of α-amino adipic semi-aldehyde (αAASA), piperidine-6-carboxylate (P6C) and pipecolic acid. The diagnosis can be confirmed by identifying the mutation in the ALDH7A1 gene in chromosome 5q3l. An 8-year-old Indian girl presented with severe developmental delay and seizures and was found to have pyridoxine-dependent epilepsy owing to an antiquitin mutation. Genetic evaluation of the parents allowed antenatal diagnosis to be made during the next pregnancy.