Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene

Corrêa-Giannella, Maria Lúcia; Freire, Daniel Soares; Cavaleiro, Ana Mercedes; Fortes, Maria Angela Zanella; Giorgi, Ricardo Rodrigues; Pereira, Maria Adelaide Albergaria

doi:10.1590/s0004-27302012000800004

Cited by 7 publications

(5 citation statements)

References 16 publications

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“…In treating hyperinsulinism-hyperammonemia syndrome (OMIM:606762), diazoxide inhibits insulin release and promotes complete resolution of hypoglycemia [42].…”

Section: Procedures To Mitigate Dominant Effect Of a Genetically Abnormentioning

confidence: 99%

DDIEM: drug database for inborn errors of metabolism

Abdelhakim

McMurray

Syed

et al. 2020

Orphanet J Rare Dis

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Background: Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management strategies has proved challenging. An overview of the changing landscape of therapeutic approaches is helpful in assessing strategic patterns in the approach to therapy, but the information is scattered throughout the literature and public data resources. Results: We gathered data on therapeutic strategies for 300 diseases into the Drug Database for Inborn Errors of Metabolism (DDIEM). Therapeutic approaches, including both successful and ineffective treatments, were manually classified by their mechanisms of action using a new ontology. Conclusions: We present a manually curated, ontologically formalized knowledgebase of drugs, therapeutic procedures, and mitigated phenotypes. DDIEM is freely available through a web interface and for download at http://ddiem.phenomebrowser.net.

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“…In treating hyperinsulinism-hyperammonemia syndrome (OMIM:606762), diazoxide inhibits insulin release and promotes complete resolution of hypoglycemia [42].…”

Section: Procedures To Mitigate Dominant Effect Of a Genetically Abnormentioning

confidence: 99%

DDIEM: drug database for inborn errors of metabolism

Abdelhakim

McMurray

Syed

et al. 2020

Orphanet J Rare Dis

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“…Miglustat is a form of substrate reduction therapy (SRT) used to treat Gaucher's disease (OMIM:230800) where miglustat inhibits the ceramide-specific glucosyltransferase which catalyses the first committed step of GSL synthesis [36]. Procedure to mitigate dominant effect of a genetically abnormal protein In treating hyperinsulinism-hyperammonemia syndrome (OMIM:606762), diazoxide inhibits insulin release and promotes complete resolution of hypoglycemia [37].…”

Section: Functional Complementation Of a Genetically Defective Proteimentioning

confidence: 99%

DDIEM: Drug Database for Inborn Errors of Metabolism

Abdelhakim

McMurray

Syed

et al. 2020

Preprint

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Background: Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management strategies has proved challenging. An overview of the changing landscape of therapeutic approaches is helpful in assessing strategic patterns in the approach to therapy, but the information is scattered throughout the literature and public data resources.Results: We gathered data on therapeutic strategies for 299 diseases into the Drug Database for Inborn Errors of Metabolism (DDIEM). Therapeutic approaches, including both successful and ineffective treatments, were manually classified by their mechanisms of action using a new ontology.Conclusions: We present a manually curated, ontologically formalized knowledgebase of drugs, therapeutic procedures, and mitigated phenotypes. DDIEM is freely available through a web interface and for download at http://ddiem.phenomebrowser.net.

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“…Patients with this syndrome will develop leucine-induced hypoglycaemia. Diazoxide is the treatment of choice for hyperinsulinism-hyperammonaemia syndrome [42,43].…”

Section: Congenital Hyperinsulinism Of Infancymentioning

confidence: 99%

“…U pacjentów z tym zespołem rozwinie się hipoglikemia indukowaną leucyną. Lekiem z wyboru w terapii zespołu hipoglikemia-hiperamonemia jest diazoksyd [42,43].…”

Section: Reviewunclassified

Hypoglycaemia in endocrine, diabetic, and internal diseases [Hipoglikemia w schorzeniach endokrynologicznych, diabetologicznych i internistycznych]

Rokicka

Marek

Kajdaniuk

et al. 2019

Endokrynologia Polska

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Hypoglycaemia is a decrease in blood glucose concentration below the physiological level. It occurs in healthy people and in people with various diseases with inadequate secretion of insulin by b cells, or deficiency of counterregulatory hormones secreted at the moment of hypoglycaemia. Hypoglycaemia is also associated with diabetes therapy, regardless of whether behavioural therapy, oral hypoglycaemic agents, or insulin are used. Distinguishing the causes of hypoglycaemia is the basis for taking appropriate therapeutic actions that protect patients against subsequent episodes of lowering blood glucose and complications caused by hypoglycaemia.

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Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene

Cited by 7 publications

References 16 publications

DDIEM: drug database for inborn errors of metabolism

DDIEM: drug database for inborn errors of metabolism

DDIEM: Drug Database for Inborn Errors of Metabolism

Hypoglycaemia in endocrine, diabetic, and internal diseases [Hipoglikemia w schorzeniach endokrynologicznych, diabetologicznych i internistycznych]

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