Molecular genetics

Gen. Form

Gene

Chromosome

Heredity

Clinical Signs

Treatment

KATP-HI

ABCC8

KCNJ11

11p15

Diffuse: AR

Focal: Loss of heterozygosity with paternal mutation

Severe hypoglycemia, no response to medicinal treatment

Pancreatectomy or "conservative" treatment with Octreotide and continual food intake

Dominant

KATP-HI

ABCC8

KCNJ11

11p15

AD

Milder hypoglycemia: response to diazoxide

Diazoxide

GDH-HI

(HI/HA)

GLUD-1

10q

AD

Fasting- and postprandial hypoglycemia, less severe than, protein sensitivity, asymptomatic hyperammonemia

Diazoxide

GK-HI

GCK

7p

AD

Variable phenotype: ranges from easily handled with med. treatment to very difficult to control

Diazoxide, Pancreatectomy

SCHAD-HI

HADH

4q

AR

Mild to severe hypoglycemia, abnormal acylcarnitine profile

Diazoxide

MCT1

(EIHI)

SLC16A1

1q

AD

Hypoglycemia after physical exertion, particularly anaerobic

Carbohydrate intake during physical exertion, limit physical exertion

(Kopie 1)

[Translate to türkisch:] AR, autosomal-rezessiv: AD, autosomal dominant

 

Quelle: Palladino et. Al. J Lab Med 2009;33(3):166-175

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