Hypoglycaemia related to inherited metabolic diseases in adults
<p>Abstract</p> <p>In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn er...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2012-05-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://www.ojrd.com/content/7/1/26 |
| _version_ | 1818474751269535744 |
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| author | Douillard Claire Mention Karine Dobbelaere Dries Wemeau Jean-Louis Saudubray Jean-Marie Vantyghem Marie-Christine |
| author_facet | Douillard Claire Mention Karine Dobbelaere Dries Wemeau Jean-Louis Saudubray Jean-Marie Vantyghem Marie-Christine |
| author_sort | Douillard Claire |
| collection | DOAJ |
| description | <p>Abstract</p> <p>In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn errors of metabolism (IEM) should be considered, particularly in cases of multisystemic involvement. In children, IEM are considered a differential diagnosis in cases of hypoglycaemia. In adulthood, IEM-related hypoglycaemia can persist in a previously diagnosed childhood disease. Hypoglycaemia may sometimes be a presenting sign of the IEM. Short stature, hepatomegaly, hypogonadism, dysmorphia or muscular symptoms are signs suggestive of IEM-related hypoglycaemia. In both adults and children, hypoglycaemia can be clinically classified according to its timing. <it>Postprandial</it> hypoglycaemia can be an indicator of either endogenous hyperinsulinism linked to non-insulinoma pancreatogenic hypoglycaemia syndrome (NIPHS, unknown incidence in adults) or very rarely, inherited fructose intolerance. Glucokinase-activating mutations (one family) are the only genetic disorder responsible for NIPH in adults that has been clearly identified so far. <it>Exercise-induced</it> hyperinsulinism is linked to an activating mutation of the monocarboxylate transporter 1 (one family). <it>Fasting</it> hypoglycaemia may be caused by IEM that were already diagnosed in childhood and persist into adulthood: glycogen storage disease (GSD) type I, III, 0, VI and IX; glucose transporter 2 deficiency; fatty acid oxidation; ketogenesis disorders; and gluconeogenesis disorders. Fasting hypoglycaemia in adulthood can also be a rare presenting sign of an IEM, especially in GSD type III, fatty acid oxidation [medium-chain acyl-CoA dehydrogenase (MCAD), ketogenesis disorders (3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA) lyase deficiency, and gluconeogenesis disorders (fructose-1,6-biphosphatase deficiency)].</p> |
| first_indexed | 2024-04-14T04:40:24Z |
| format | Article |
| id | doaj.art-ebe5a5b03acb47718d7c107c21a37439 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-14T04:40:24Z |
| publishDate | 2012-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-ebe5a5b03acb47718d7c107c21a374392022-12-22T02:11:41ZengBMCOrphanet Journal of Rare Diseases1750-11722012-05-01712610.1186/1750-1172-7-26Hypoglycaemia related to inherited metabolic diseases in adultsDouillard ClaireMention KarineDobbelaere DriesWemeau Jean-LouisSaudubray Jean-MarieVantyghem Marie-Christine<p>Abstract</p> <p>In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn errors of metabolism (IEM) should be considered, particularly in cases of multisystemic involvement. In children, IEM are considered a differential diagnosis in cases of hypoglycaemia. In adulthood, IEM-related hypoglycaemia can persist in a previously diagnosed childhood disease. Hypoglycaemia may sometimes be a presenting sign of the IEM. Short stature, hepatomegaly, hypogonadism, dysmorphia or muscular symptoms are signs suggestive of IEM-related hypoglycaemia. In both adults and children, hypoglycaemia can be clinically classified according to its timing. <it>Postprandial</it> hypoglycaemia can be an indicator of either endogenous hyperinsulinism linked to non-insulinoma pancreatogenic hypoglycaemia syndrome (NIPHS, unknown incidence in adults) or very rarely, inherited fructose intolerance. Glucokinase-activating mutations (one family) are the only genetic disorder responsible for NIPH in adults that has been clearly identified so far. <it>Exercise-induced</it> hyperinsulinism is linked to an activating mutation of the monocarboxylate transporter 1 (one family). <it>Fasting</it> hypoglycaemia may be caused by IEM that were already diagnosed in childhood and persist into adulthood: glycogen storage disease (GSD) type I, III, 0, VI and IX; glucose transporter 2 deficiency; fatty acid oxidation; ketogenesis disorders; and gluconeogenesis disorders. Fasting hypoglycaemia in adulthood can also be a rare presenting sign of an IEM, especially in GSD type III, fatty acid oxidation [medium-chain acyl-CoA dehydrogenase (MCAD), ketogenesis disorders (3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA) lyase deficiency, and gluconeogenesis disorders (fructose-1,6-biphosphatase deficiency)].</p>http://www.ojrd.com/content/7/1/26Inborn errors of metabolismHypoglycaemiaNon-insulinoma pancreatogenic hypoglycaemia syndromeGlycogen storage diseaseFatty acid oxidation disorderGluconeogenesis |
| spellingShingle | Douillard Claire Mention Karine Dobbelaere Dries Wemeau Jean-Louis Saudubray Jean-Marie Vantyghem Marie-Christine Hypoglycaemia related to inherited metabolic diseases in adults Orphanet Journal of Rare Diseases Inborn errors of metabolism Hypoglycaemia Non-insulinoma pancreatogenic hypoglycaemia syndrome Glycogen storage disease Fatty acid oxidation disorder Gluconeogenesis |
| title | Hypoglycaemia related to inherited metabolic diseases in adults |
| title_full | Hypoglycaemia related to inherited metabolic diseases in adults |
| title_fullStr | Hypoglycaemia related to inherited metabolic diseases in adults |
| title_full_unstemmed | Hypoglycaemia related to inherited metabolic diseases in adults |
| title_short | Hypoglycaemia related to inherited metabolic diseases in adults |
| title_sort | hypoglycaemia related to inherited metabolic diseases in adults |
| topic | Inborn errors of metabolism Hypoglycaemia Non-insulinoma pancreatogenic hypoglycaemia syndrome Glycogen storage disease Fatty acid oxidation disorder Gluconeogenesis |
| url | http://www.ojrd.com/content/7/1/26 |
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