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Hypoglycaemia related to inherited metabolic diseases in adults

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 co...

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Autores principales: Douillard, Claire, Mention, Karine, Dobbelaere, Dries, Wemeau, Jean-Louis, Saudubray, Jean-Marie, Vantyghem, Marie-Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458880/
https://www.ncbi.nlm.nih.gov/pubmed/22587661
http://dx.doi.org/10.1186/1750-1172-7-26
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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 PubMed
description 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. Postprandial 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. Exercise-induced hyperinsulinism is linked to an activating mutation of the monocarboxylate transporter 1 (one family). Fasting 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)].
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spelling pubmed-34588802012-09-27 Hypoglycaemia related to inherited metabolic diseases in adults Douillard, Claire Mention, Karine Dobbelaere, Dries Wemeau, Jean-Louis Saudubray, Jean-Marie Vantyghem, Marie-Christine Orphanet J Rare Dis Review 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. Postprandial 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. Exercise-induced hyperinsulinism is linked to an activating mutation of the monocarboxylate transporter 1 (one family). Fasting 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)]. BioMed Central 2012-05-15 /pmc/articles/PMC3458880/ /pubmed/22587661 http://dx.doi.org/10.1186/1750-1172-7-26 Text en Copyright ©2012 Douillard et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Douillard, Claire
Mention, Karine
Dobbelaere, Dries
Wemeau, Jean-Louis
Saudubray, Jean-Marie
Vantyghem, Marie-Christine
Hypoglycaemia related to inherited metabolic diseases in adults
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 Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458880/
https://www.ncbi.nlm.nih.gov/pubmed/22587661
http://dx.doi.org/10.1186/1750-1172-7-26
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