Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease, in this case maple syrup urine disease (MSUD), adds more challenges t...
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| Format: | Article |
| Language: | English |
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Galenos Yayincilik
2023-09-01
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| Series: | JCRPE |
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| Online Access: | https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-04796&look4= |
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| author | Azza AL Shidhani Abdulhamid Al Hinai Khalid Al Thihli Hilal Al Mandhari Saif Al Yaarubi Irfan Ullah Nadia Al-Hashmi Fathiya Al Murshedi |
| author_facet | Azza AL Shidhani Abdulhamid Al Hinai Khalid Al Thihli Hilal Al Mandhari Saif Al Yaarubi Irfan Ullah Nadia Al-Hashmi Fathiya Al Murshedi |
| author_sort | Azza AL Shidhani |
| collection | DOAJ |
| description | Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease, in this case maple syrup urine disease (MSUD), adds more challenges to the already complex management. We report a term neonate who developed symptomatic, non-ketotic hypoglycemia with a blood glucose (BG) level of 1.9 mmol/L at 21-hours of life. A critical sample at that time showed high serum insulin and C-peptide levels confirming the diagnosis of CHI. Tandem mass spectrometry done at the same time was suggestive of MSUD which was confirmed by high performance liquid chromatography. The diagnosis of both conditions was subsequently confirmed by molecular genetic testing. His hypoglycemia was managed with high glucose infusion with medical therapy for CHI and branched chain amino acids (BCAA) restricted medical formula. At the age of four months, a near-total pancreatectomy was done, due to the failure of conventional therapy. Throughout his complicated course, he required meticulous monitoring of his BG and modified plasma amino acid profile aiming to maintain the BG at ≥3.9 mmol/L and levels of the three BCAAs at the disease therapeutic targets for his age. The patient is currently 29 months old and has normal growth and development. This patient is perhaps the only known case of the co-occurrence of CHI with MSUD. Both hypoglycemia and leucine encephalopathy can result in death or permanent neurological damage. The management of CHI and MSUD in combination is very challenging. |
| first_indexed | 2024-03-12T13:31:45Z |
| format | Article |
| id | doaj.art-b93e38432f414d1fa2dbedc976e80aa5 |
| institution | Directory Open Access Journal |
| issn | 1308-5727 1308-5735 |
| language | English |
| last_indexed | 2024-03-12T13:31:45Z |
| publishDate | 2023-09-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj.art-b93e38432f414d1fa2dbedc976e80aa52023-08-24T11:27:23ZengGalenos YayincilikJCRPE1308-57271308-57352023-09-0115330230610.4274/jcrpe.galenos.2021.2021.0173JCRPE-04796Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging CombinationAzza AL Shidhani0https://orcid.org/0000-0001-8133-3728Abdulhamid Al Hinai1https://orcid.org/0000-0002-5914-7686Khalid Al Thihli2https://orcid.org/0000-0001-7518-4615Hilal Al Mandhari3https://orcid.org/0000-0003-2813-7757Saif Al Yaarubi4https://orcid.org/0000-0003-0228-1304Irfan Ullah5https://orcid.org/0000-0002-1557-1071Nadia Al-Hashmi6https://orcid.org/0000-0002-2171-2950Fathiya Al Murshedi7https://orcid.org/0000-0002-6305-9718Sultan Qaboos University Hospital, Department of Child Health, Muscat, OmanSultan Qaboos University Hospital, Department of Genetics, Muscat, OmanSultan Qaboos University Hospital, Department of Genetics, Muscat, OmanSultan Qaboos University Hospital, Department of Child Health, Muscat, OmanSultan Qaboos University Hospital, Department of Child Health, Muscat, OmanSultan Qaboos University Hospital, Department of Child Health, Muscat, OmanRoyal Hospital, Department of Child Health, Muscat, OmanSultan Qaboos University Hospital, Department of Genetics, Muscat, OmanCongenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy. CHI is a challenging disease to diagnose and manage. Moreover, complicating the course of the disease with another metabolic disease, in this case maple syrup urine disease (MSUD), adds more challenges to the already complex management. We report a term neonate who developed symptomatic, non-ketotic hypoglycemia with a blood glucose (BG) level of 1.9 mmol/L at 21-hours of life. A critical sample at that time showed high serum insulin and C-peptide levels confirming the diagnosis of CHI. Tandem mass spectrometry done at the same time was suggestive of MSUD which was confirmed by high performance liquid chromatography. The diagnosis of both conditions was subsequently confirmed by molecular genetic testing. His hypoglycemia was managed with high glucose infusion with medical therapy for CHI and branched chain amino acids (BCAA) restricted medical formula. At the age of four months, a near-total pancreatectomy was done, due to the failure of conventional therapy. Throughout his complicated course, he required meticulous monitoring of his BG and modified plasma amino acid profile aiming to maintain the BG at ≥3.9 mmol/L and levels of the three BCAAs at the disease therapeutic targets for his age. The patient is currently 29 months old and has normal growth and development. This patient is perhaps the only known case of the co-occurrence of CHI with MSUD. Both hypoglycemia and leucine encephalopathy can result in death or permanent neurological damage. The management of CHI and MSUD in combination is very challenging.https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-04796&look4=hypoglycemiacongenital hyperinsulinemiamaple syrup urine diseaseabcc8 mutationbckdha mutation |
| spellingShingle | Azza AL Shidhani Abdulhamid Al Hinai Khalid Al Thihli Hilal Al Mandhari Saif Al Yaarubi Irfan Ullah Nadia Al-Hashmi Fathiya Al Murshedi Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination JCRPE hypoglycemia congenital hyperinsulinemia maple syrup urine disease abcc8 mutation bckdha mutation |
| title | Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination |
| title_full | Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination |
| title_fullStr | Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination |
| title_full_unstemmed | Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination |
| title_short | Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination |
| title_sort | congenital hyperinsulinism and maple syrup urine disease a challenging combination |
| topic | hypoglycemia congenital hyperinsulinemia maple syrup urine disease abcc8 mutation bckdha mutation |
| url | https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-04796&look4= |
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