{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T01:37:58Z","timestamp":1790386678234,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,3,14]],"date-time":"2019-03-14T00:00:00Z","timestamp":1552521600000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe the case of a young woman, from a consanguineous family, affected by adult Refsum disease (ARD, OMIM#266500). ARD is a rare peroxisomal autosomal recessive disease due to deficient alpha\u2010oxidation of phytanic acid (PA), a branched\u2010chain fatty acid. The accumulation of PA in organs is thought to be responsible for disease symptoms. The patient presented only bilateral shortening of metatarsals and has been treated with a low\u2010PA diet. She is homoallelic for the c.135\u20102A\u2009&gt;\u2009G mutation of <jats:italic>PHYH<\/jats:italic>, and she married her first cousin carrying the same mutation. She was pregnant seven times and had two homozygous girls. Due to a potential exacerbation of the disease during the third trimester of pregnancy, her weight and plasma PA levels were monitored. No specific events were noticed for the mother during the pregnancies and postpartum periods. This case also raised the question of potential exposure to PA (and its subsequent toxicity) of a homozygous fetus in a homozygous mother. Despite modestly elevated plasma concentrations of PA at birth (&lt;30\u2009\u03bcmol\/L), the two affected girls did not present any specific sign of ARD and have so far developed normally. As only a few determinations of plasma PA levels in the mother could be performed during pregnancies, showing mild elevations (&lt;350\u2009\u03bcmol\/L), it remains difficult to conclude as to a possible transplacental crossing of PA.<\/jats:p>","DOI":"10.1002\/jmd2.12020","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T03:49:09Z","timestamp":1694404149000},"page":"11-15","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother"],"prefix":"10.1002","volume":"46","author":[{"given":"Patricia","family":"Dubot","sequence":"first","affiliation":[{"name":"Laboratoire de Biochimie M\u00e9tabolique Centre de R\u00e9f\u00e9rence en Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Institut F\u00e9d\u00e9ratif de Biologie, CHU de Toulouse  Toulouse France"},{"name":"INSERM UMR1037 CRCT (Cancer 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