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Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy
Author(s) -
Debs Sarah,
Ferreira Carlos R.,
Groden Catherine,
Kim H. Jeffrey,
King Kelly A.,
King Monique C.,
Lehky Tanya,
Cowen Edward W.,
Brown Laura H.,
Merideth Melissa,
Owen Carter M.,
Macnamara Ellen,
Toro Camilo,
Gahl William A.,
Soldatos Ariane
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62245
Subject(s) - medicine , ichthyosis , exome sequencing , microcephaly , compound heterozygosity , congenital ichthyosis , neurodegeneration , serine , pediatrics , intellectual disability , phenotype , bioinformatics , genetics , pathology , dermatology , gene , biology , disease , psychiatry , phosphorylation
A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult. She has novel compound heterozygous mutations in the gene PSAT1 . Treatment with high dose oral L‐serine completely resolved the ichthyosis. Consideration of this diagnosis is important because early treatment with L‐serine repletion can halt progression of neurodegeneration and potentially improve neurological disabilities. As exome sequencing becomes more widely implemented in the diagnostic evaluation of progressive neurodegenerative phenotypes, adult neurologists and geneticists will increasingly encounter later onset manifestations of inborn errors of metabolism classically considered in infancy and early childhood.