{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T10:17:41Z","timestamp":1788257861635,"version":"build-2803163510"},"reference-count":23,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T00:00:00Z","timestamp":1708905600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Background: Glutaric aciduria type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare autosomal recessive metabolic disorder with varied manifestations and onset ages. Case Report: This study presents a distinctive case of a 10-year-old girl who experienced episodic, intermittent vomiting and epigastric pain, particularly aggravated by high-fat and sweet foods. Despite inconclusive physical examinations and routine laboratory tests, and an initial suspicion of cyclic vomiting syndrome, the persistence of recurrent symptoms and metabolic abnormalities (metabolic acidosis and hypoglycemia) during her third hospital admission necessitated further investigation. Advanced diagnostic tests, including urinary organic acid analysis and genetic testing, identified heterozygous pathogenic variants in the ETFDH gene, confirming a diagnosis of GA IIc. The patient showed a positive response to a custom low-protein, low-fat diet supplemented with carnitine and riboflavin. Significance: This case emphasizes the diagnostic challenges associated with recurrent, nonspecific gastrointestinal symptoms in pediatric patients, particularly in differentiating between common gastrointestinal disorders and rare metabolic disorders like GA II. It highlights the importance of considering a broad differential diagnosis to enhance understanding and guide future medical approaches in similar cases.<\/jats:p>","DOI":"10.3390\/children11030285","type":"journal-article","created":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T07:51:39Z","timestamp":1708933899000},"page":"285","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II"],"prefix":"10.3390","volume":"11","author":[{"given":"Ho-Poh","family":"Kek","sequence":"first","affiliation":[{"name":"Department of Pediatrics, E-Da Hospital, I-Shou University, No. 1, Yi-Da Road, Yan-Chao District, Kaohsiung City 82445, Taiwan, R.O.C."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan-Long","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, E-Da Hospital, I-Shou University, No. 1, Yi-Da Road, Yan-Chao District, Kaohsiung City 82445, Taiwan, R.O.C."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pao-Chin","family":"Chiu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Kaohsiung Veterans General Hospital, No. 386, Dazhong 1st Road, Zuo-Ying District, Kaohsiung City 813414, Taiwan, R.O.C."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Harn","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, E-Da Hospital, I-Shou University, No. 1, Yi-Da Road, Yan-Chao District, Kaohsiung City 82445, Taiwan, R.O.C."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5719-8730","authenticated-orcid":false,"given":"Ching-Chung","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, E-Da Hospital, I-Shou University, No. 1, Yi-Da Road, Yan-Chao District, Kaohsiung City 82445, Taiwan, R.O.C."},{"name":"School of Medicine for International Students, College of Medicine, I-Shou University, No. 8, Yi-Da Road, Yan-Chao District, Kaohsiung City 82445, Taiwan, R.O.C."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1542\/peds.111.6.1399","article-title":"Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications","volume":"6","author":"Schulze","year":"2003","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Ali, A., Almesmari, F.S.A., Al Dhahouri, N., Ali, A.M.S., Aldhanhani, M.A.A.M.A., Vijayan, R., Al Tenaiji, A., Al Shamsi, A., Hertecant, J., and Al Jasmi, F. 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