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What’s new in metabolic and genetic hypoglycaemias: diagnosis and management

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Abstract

Hypoglycaemia in children can be a life-threatening situation that needs to be assessed rigorously in order to treat efficiently and avoid relapse that can be responsible for cerebral damage. The diagnosis of impairment in glucose homeostasis requires the knowledge of the mechanisms regulating blood glucose concentration. The clinical history and presentation, when available, especially the timing of hypoglycaemia with respect to the last meal and some simple clinical and biological tests may allow diagnosing the vast majority of patients presenting with hypoglycaemia. Recently, new metabolic and endocrinologic genetic causes of hypoglycaemia have been identified that may give new insight to the complex mechanisms of glucose regulation and thus contribute to the discovery of new genes regulating glucose homeostasis. New diagnostic tests such as the 18-fluoro-Dopa PET-scan have also been recently developed.

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Abbreviations

ATP::

Adenosine triphosphate

BWS::

Beckwith-Wiedemann syndrome

CDG::

Congenital disorders of glycosylation

FAO::

Fatty acid oxidation

FBS::

Fanconi-Bickel syndrome

GDH::

Glutamate dehydrogenase

GH::

Growth hormone

GK::

Glucokinase

GTP::

Guanosine triphosphate

HI::

Hyperinsulinism

HIHA::

Hyperinsulinism-hyperammoniemia syndrome

IGF1::

Insuline-like growth factor 1

MCT::

Mean chain triglycerides

PET::

Positron emission tomography

SCHAD::

Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

TBG::

Thyroxin-binding globulin

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Authors and Affiliations

  1. Metabolic Department and Reference Centre for Metabolic Diseases, Necker-Enfants Malades Hospital, 149, Rue des Sèvres, 75015, Paris, France

    Vassili Valayannopoulos & Stéphane Romano

  2. Reference Centre for Metabolic Diseases, Jeanne de Flandre Hospital, Lille, France

    Karine Mention

  3. Biochemistry Laboratory, Necker-Enfants Malades Hospital, Paris, France

    Anne Vassault & Daniel Rabier

  4. Endocrinology Department, Necker-Enfants Malades Hospital, Paris, France

    Michel Polak & Jean-Jacques Robert

  5. INSERM U 781, Necker-Enfants Malades Hospital, Paris, France

    Yves de Keyzer

  6. Metabolic Department and Reference Center for Metabolic Diseases and INSERM U 781, Necker-Enfants Malades Hospital, 149, Rue des Sèvres, 75015, Paris, France

    Pascale de Lonlay

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  1. Vassili Valayannopoulos
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  2. Stéphane Romano
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  9. Pascale de Lonlay
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Correspondence to Vassili Valayannopoulos.

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Valayannopoulos, V., Romano, S., Mention, K. et al. What’s new in metabolic and genetic hypoglycaemias: diagnosis and management. Eur J Pediatr 167, 257–265 (2008). https://doi.org/10.1007/s00431-007-0600-2

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  • DOI: https://doi.org/10.1007/s00431-007-0600-2

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