Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyperinsulinämische Hypoglycämie 6

Der angeborene Hyperinsulinismus ist die häufigste Ursache einer anhaltenden Hypoglycämie im Kleinkindesalter. Die Ursache ist eine abnorm hohe Insulinsekretion trotz niedriger Blutglukose. Die gefürchtetste Komplikation sind zerebrale Schäden aufgrund der Hypoglycämie. Der Typ 6 der Erkrankung wird durch Mutationen des GLUD1-Gens hervorgerufen.

Gliederung

Hyperinsulinämische Hypoglycämie
HNF1A
HNF4A
Hyperinsulinämische Hypoglycämie 1
Hyperinsulinämische Hypoglycämie 2
Hyperinsulinämische Hypoglycämie 3
Hyperinsulinämische Hypoglycämie 4
Hyperinsulinämische Hypoglycämie 5
Hyperinsulinämische Hypoglycämie 6
GLUD1
Hyperinsulinämische Hypoglycämie 7
Polyzystische Nierenerkrankung mit hyperinsulinämischer Hypoglycämie

Referenzen:

1.

Miki Y et al. (2000) Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.

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2.

Santer R et al. (2001) Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.

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3.

Thornton PS et. al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.

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4.

Stanley CA et al. (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.

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5.

Glaser B et al. (1998) Clinical and molecular heterogeneity of familial hyperinsulinism.

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6.

Hsu BY et al. (2001) Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

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7.

MacMullen C et al. (2001) Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.

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8.

Kelly A et al. (2001) Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome.

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9.

De Lonlay P et al. (2001) Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.

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10.

Ihara K et al. (2005) A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: a pitfall in enzymatic diagnosis for hyperammonaemia.

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11.

Zammarchi E et al. (1996) Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia.

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12.

Weinzimer SA et al. (1997) A syndrome of congenital hyperinsulinism and hyperammonemia.

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