Carbohydrate Metab and disorders Flashcards
Normal range of fasting plasma glucose
63-100mg/dl (3.5-5.5mmol/l)
in diagnosing DM ;
what is the FVPG level used ?
> = 126mg/dl (7mmol/l) on more than one occasion
what is the Random PG used in diagnosing DM
> = 200mg/dl (11.1mmol/l) + symptoms of DM
preferred test for diagnosing DM is
Fasting Plasma Glucose
major susceptibility gene for type 1 DM is located where ?
HLA region on chromosome 6
most specific & sensitive islet autoantibodies for type 1 DM is
Islet cell Cytoplasmic Autoantibodies (ICA)
four useful autoantibodies that can be detected at the onset of type 1 DM are ;
(1) Islet Cell cytoplasmic autoantibodies
(2) Glutamic Acid Decarboxylase Antibodies (GAD65)
(3) IA-2A = Insulinoma Associated Antibodies
(4) Zinc Transporter 8 Autoantibodies (ZnT8A)
which extra autoantibody is detected in children ?
Insulin AutoAntibody
which extra autoantibody is detected in children ?
Insulin AutoAntibody
what are the gene associated with type 2 DM
1) Transcription factor-7 like 2 (TCF7L2) gene
2) Caspain 10
pathogenesos of type 2 Dm
1) insulin resistance
2) Bcell dysfunction
3) Environmental factors (diet & exercise)
screening for GDM is done when ?
24-28weeks using OGTT
describe OGTT for GDM women
1) 50g of oral glucose in no fasting patient
2) if VPG > 7.8mmol/L(140mg/dl) proceed to diagnostic test
cut off values for GDM
1) fasting > 5.3mmol/l
2) one hr > 10mmol/l
3) two hours > 8.6mmol/l
4) three hours > 7.8mmol/l
the most measured glycated plasma protein is
fructosamine
in hereditary fructose intolerance there is accumulation of what ?
fructose -1 - phosphate
what enzyme is deficient in pentosuria ?
NADP-linked xylitol dehydrogenase
what enzyme is deficient in Von Gierke’s disease ?
glucose-6-phosphatase
Glycogen storage disease type 2 is a.k.a ?
what enzyme is deficient here ?
Pompe’s disease
*maltase (alpha-1,4-glucosidase)
-skeletal myopathy
-muscular hypotonia
-cardiomyopathy
glycogen storage dx type 3 is a.k.a
what enzyme is deficient here ?
Forbes cori
*glycogen debranching enzyme
-growth retardation
-muscle weakness
-cardiomyopathy
glycogen storage dx type 4 is a.k.a
what enzyme is deficient here ?
Andersen’s
*glycogen branching enzyme
-hepatomegaly
-splenomegaly
-cardiac defects
-skeletal defects
glycogen storage dx type VI is a.k.a
what enzyme is deficient here ?
Hers disease
*glycogen phosphorylase
-short stature
glycogen storage dx type V is a.k.a
what enzyme is deficient here ?
Mcardle disease
*myophosphorylase
-affects mostly skeletal muscle
glycogen storage dx type VII is a.k.a
what enzyme is deficient here ?
Tarui’s disease
*phosphofructokinase deficiency