Alteration in ornithine metabolism due to mutation in ALDH18A1 masquerading as ALS in pregnancy.

Abstract excerpt

Clinical onset and exacerbation of autosomal dominant SPG9A hereditary spastic paraplegia, including reversible wasting, has been described during pregnancy. SPG9A is due to ALDH18A1 mutations resulting in proline and ornithine deficiency. We present the case of a 29 year old primagravida at 32 weeks who presented with six months of upper limb amyotrophic wasting on a background unrecognized progressive...

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• Aldehyde Dehydrogenase
• Amyotrophic Lateral Sclerosis
• Diagnosis, Differential
• Mutation
• Ornithine