Galactosaemia

<Presentations>

<Index>

 

 

Definition

-  Elevated serum galactose due to altered metabolism of lactose

-  Usually galaktokinase deficiency

-  Galactose = monosaccharide

 

Features

-  Lactose = galactose + glucose

-  1:60,000 births

-  Autosomal recessive

-  Part of new born screening

-  Effects infant from conception

 

Associated S/S

-  Liver dysfunction

-  FTT 29%

-  Lenticular cataracts (congenital)

-  Susceptability to infection

-  Ovarian dysfunction

-  Jaundice 74%

-  Vomiting 47%

-  Hepatomegaly 43% (at birth)

-  Lethargy

-  Hyoptonia

 

Ix

-  Urine reducing substances

-  RBC GALT activity

 

Mx

-  Nutritionist

-  Soy based formulas

-  Cataract surgery