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ALDH18A1-related cutis laxa syndrome with cyclic vomiting

Fumihito Nozaki1, Takashi Kusunoki1, Nobuhiko Okamoto2

  • 1Department of Pediatrics, Shiga Medical Center for Children, Shiga, Japan.

Brain & Development
|February 3, 2016
PubMed

Insights

This study reports a rare case of ALDH18A1-related Cutis laxa (CL) in a 12-year-old boy, presenting with cyclic vomiting and specific amino acid deficiencies. This highlights a novel association between this connective tissue disorder and gastrointestinal symptoms.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Cutis laxa (CL) encompasses a group of connective tissue disorders characterized by skin laxity and potential organ involvement.
  • ALDH18A1-related CL is a rare subtype with diverse clinical manifestations.

Keywords:
ALDH18A1Cutis laxa syndromeCyclic vomitingP5CSR138

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