ALDH18A1-related cutis laxa syndrome with cyclic vomiting

Fumihito Nozaki, Takashi Kusunoki, Nobuhiko Okamoto, Yuto Yamamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Kenjiro Kosaki, Tomohiro Kumada, Minoru Shibata, Tatsuya Fujii

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)


Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, short stature, joint hyperlaxity, microcephaly, strabismus, bilateral cataracts, facial dysmorphism and severe mental retardation. Bone radiographs showed osteopenia and osteoporosis, and magnetic resonance angiography showed marked kinking and tortuosity of the brain vessels. These findings were clinically compatible with ALDH18A1-related CL. Molecular analysis revealed a de novo heterozygous mutation (p.R138Q) in ALDH18A1. No mutations were found in PYCR1 gene. The patient developed cyclic vomiting with decreased blood levels of ornithine, citrulline, arginine and proline without hyperammonemia and other hypoaminoacidemias were also found. ALDH18A1 encodes δ1-pyrroline-5-carboxylate synthase, which is related to the biosynthesis of ornithine, citrulline, arginine, and proline. Cyclic vomiting has never been reported in other ALDH18A1-related CL patients. This is the first case report of ALDH18A1-related CL with cyclic vomiting associated with amino acid abnormalities.

Original languageEnglish
Pages (from-to)678-684
Number of pages7
JournalBrain and Development
Issue number7
Publication statusPublished - 2016 Aug 1


  • ALDH18A1
  • Cutis laxa syndrome
  • Cyclic vomiting
  • P5CS
  • R138

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology


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