PPM1K defects cause mild maple syrup urine disease: The second case in the literature

ÖZÇELİK F., ARSLAN S., Ozguc Caliskan B., KARDAŞ F., ÖZKUL Y., DÜNDAR M.

American Journal of Medical Genetics, Part A, cilt.191, sa.5, ss.1360-1365, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 191 Sayı: 5
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1002/ajmg.a.63129
  • Dergi Adı: American Journal of Medical Genetics, Part A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1360-1365
  • Anahtar Kelimeler: genotype-phenotype correlation, maple syrup urine disease, next-generation sequencing, PPM1K
  • Erciyes Üniversitesi Adresli: Evet

Özet

© 2023 Wiley Periodicals LLC.Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by the insufficient catabolism of branched-chain amino acids. BCKDHA, BCKDHB, DBT, and DLD encode the subunits of the branched-chain α-ketoacid dehydrogenase complex, which is responsible for the catabolism of these amino acids. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT are characteristic of MSUD. In addition, a patient with a PPM1K defect was previously reported. PPM1K dephosphorylates and activates the enzyme complex. We report a patient with MSUD with mild findings and elevated BCAA levels carrying a novel homozygous start-loss variant in PPM1K. Our study offers further evidence that PPM1K variants cause mild MSUD.