{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T09:00:24Z","timestamp":1781254824626,"version":"3.54.1"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    To improve understanding of isovaleric acidemia (IVA) by analyzing the clinical features, genetic basis, and treatment outcomes of a child with chronic intermittent IVA. A 4\u2010month\u2010old infant presenting with lethargy, pallor, and growth retardation was diagnosed with IVA using tandem mass spectrometry (MS\/MS), urinary organic acid analysis, and genetic testing. MS\/MS and urine gas chromatography\u2013mass spectrometry revealed elevated isovalerylcarnitine and isovalerylglycine. Whole\u2010exome sequencing identified a novel homozygous\n                    <jats:italic>IVD<\/jats:italic>\n                    gene variant (c.899_905delinsCCCACAG) in the proband, with both parents confirmed as carriers. The patient was treated with a leucine\u2010restricted diet, glycine, L\u2010carnitine, and arginine. Follow\u2010up showed reduced metabolite levels and improved neurodevelopment. IVA is an autosomal recessive disorder caused by isovaleryl\u2010CoA dehydrogenase deficiency, leading to toxic metabolite accumulation. Clinical symptoms are nonspecific, often resulting in misdiagnosis. Early use of MS\/MS and genetic testing enables timely diagnosis and targeted treatment, improving outcomes.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.72414","type":"journal-article","created":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T05:13:06Z","timestamp":1775106786000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of Isovaleric Acidemia With Hyperammonemia Caused by Compound Heterozygous\n                    <scp>\n                      <i>IVD<\/i>\n                    <\/scp>\n                    Variants: Clinical Features, Molecular Genetics, and Therapeutic Follow\u2010Up"],"prefix":"10.1002","volume":"14","author":[{"given":"Zhi","family":"Deng","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guojing","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shangqing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"He","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2523-460X","authenticated-orcid":false,"given":"Ye","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of 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