Case Report
Volume: 2 | Issue: 2 | Published: Nov 25, 2019 | Pages: 151 - 155 | DOI: 10.24911/JBCGenetics/183-1542544695
Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
Authors: Zuhair Rahbeeni , Afaf Alsagheir , Angham Al-Mutair
Article Info
Authors
Zuhair Rahbeeni
Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Afaf Alsagheir
Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
Angham Al-Mutair
King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdullah Specialized Children Hospital, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
Publication History
Received: November 18, 2018
Revised: September 04, 2019
Accepted: October 07, 2019
Published: November 25, 2019
Abstract
Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria. Case Presentation: The proband was born after a full-term pregnancy and normal vaginal delivery, with a good Apgar score (8, 9 at 1 and 5 minutes) and the birth weight of 2.5 kg with ambiguous genitalia in the form of phallus-like structure (3 cm), the fusion of labio-scrotal folds and urogenital sinus. The third day after birth, the proband was lethargic and developed hyperkalemia and hyponatremia, which required intravenous fluid therapy and hormonal replacement with hydrocortisone and fludrocortisone. The treatment was based on the positive family history of congenital adrenal hyperplasia in an older male sibling. Laboratory tests, cytogenetic study, tandem mass spectroscopy, and surgery were performed for the affected individual (II-8) using standard procedures. The laboratory and the treatment revealed significant improvements. Follow-up tandem mass spectroscopy results were observed in the normal range. The affected individual was treated with prednisone (2.5 mg bid) and Florinef (Fludrocortisone) (0.1 mg OD). The subject had regular menses, while acne and hirsutism were not observed. Conclusion: We are reporting the first case of MSUD associated with CAH, 21-hydroxylase deficiency salt-losing type and suggest that glucocorticoids might have an important role in treating MSUD cases.
Keywords: MSUD, 21-hydroxylase deficiency, congenital adrenal hyperplasia
Pubmed Style
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair. Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact. JBC Genetics. 2019; 25 (November 2019): 151-155. doi:10.24911/JBCGenetics/183-1542544695
Web Style
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair. Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact. https://www.jbcgenetics.com/index.php/articles/2187 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1542544695
AMA (American Medical Association) Style
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair. Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact. JBC Genetics. 2019; 25 (November 2019): 151-155. doi:10.24911/JBCGenetics/183-1542544695
Vancouver/ICMJE Style
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair. Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact. JBC Genetics. (2019), [cited April 27, 2025]; 25 (November 2019): 151-155. doi:10.24911/JBCGenetics/183-1542544695
Harvard Style
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair (2019) Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact. JBC Genetics, 25 (November 2019): 151-155. doi:10.24911/JBCGenetics/183-1542544695
Chicago Style
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair. "Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact." 25 (2019), 151-155. doi:10.24911/JBCGenetics/183-1542544695
MLA (The Modern Language Association) Style
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair. "Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact." 25.November 2019 (2019), 151-155. Print. doi:10.24911/JBCGenetics/183-1542544695
APA (American Psychological Association) Style
Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair (2019) Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact. , 25 (November 2019), 151-155. doi:10.24911/JBCGenetics/183-1542544695