INBORN ERROR OF CARBOHYDRATE METABOLISM Flashcards
GSD Type: 0
Glycogen synthase
GSD Type: Ia
Glucose-6-phosphatase
Von Gierke:
a. Type Ia
b. Type Ib
c. Type IXa
d. Type IXb
a. Type Ia
Von Gierke is associated to what?
Hyperlipidemia
GSD Type: Ib
Glucose-6-phosphatase Translocase
GSD Type: II
Lysosomal Acid alpha glucosidase
Glycogen Debranching Enzyme
GSD Type IIIa and IIIb
Glycogen Branching Enzyme
GSD Type IV
Muscle Phosphorylase
GSD Type V
Glycogen Phosphorylase
GSD Type VI
Match:
a. Phosphorylase kinase
b. Phosphofructokinase
c. Phosphorylase
- VI
- VII
- IXa
- X
- XIa
- IXb
a. Phosphorylase kinase - 3. IXa
b. Phosphofructokinase - 2. VII
c. Phosphorylase - 6. IXb
Congenital deficiency of one of three enzymes involved in galactose metabolism
Galactosemia –
Three (3) enzyme involved in galactose metabolism:
➼Galactose-1-phosphate uridyltransferase
➼ Galactokinase
➼ Uridine diphosphate galactose-4-epimerase (GALE)
Diagnostic Test for Galactosemia
Erythrocyte Galactose-1-phosphate uridyltransferase
What is the most important findings in urinalysis for Galactosemia?
Melituria
What enzyme is deficient in Essential Fructosuria?
Fructokinase
What enzyme is deficient in Hereditary Fructose Intolerance?
fructose-1,6-biphosphate aldolase B defect
Result of inherited deficiencies of enzymes that control the synthesis or breakdown of glycogen
Glycogen Storage Disease (GSD)/ Glycogenoses
All type of GSD are autosomal recessive, EXCEPT:
Ia
XI
IIIb
IXa
GSD IXa
GSD that manifests with exercise intolerance, muscle cramps, fatigue, weakness
MUSCLE GLYCOGENOSES/ GSD
GSD that manifests hepatomegaly, hypoglycemia, and growth retardation
HEPATIC GLYCOGENOSES/ GSD
GSD Type that causes liver damage: (5)
GSD Type I, III, IV, VI, IX (1,3,4,6,9)
Enzymes increased in Muscle Glycogenoses: (4)
Creatine Kinase
Aspartate Aminotransferase (AST)
Lactate Dehydrogenase (LD)
Aldolase
