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Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

Neurogenetics - 1 Aug 2018

Steenhof Maria, Kibæk Maria, Larsen Martin J, Christensen Mette, Lund Allan Meldgaard, Brusgaard Klaus, Hertz Jens Michael

Abstract excerpt

Mutations in ALDH18A1 can cause autosomal recessive and dominant hereditary spastic paraplegia and autosomal recessive and dominant cutis laxa. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), which consists of two domains, the glutamate 5-kinase (G5K) and the gamma-glutamyl phosphate reductase (GR5P) domain. The location of the mutations in the gene has influence on whether the amino acid...

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PMID: 29754261
DOI: 10.1007/s10048-018-0547-7

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