recessive
Glucose Phosphate Isomerase Deficiency
•Hemolytic anemia
•A glycolytic anomaly
Glucose 6-Phosphatase Deficiency
•Von-Gierke’s Disease
•Most common glycogen storage disease (Type I)
•Increased Liver and kidney glycogen; hypoglycemia; Gout; prolonged PT, hypertriglyceridemia
•Autosomal recessive
Galactosamine-6-Sulfate Sulfatase Deficiency
•Morquio’s Syndrome
•Mucopolysaccharidoses
•Increased keratan sulfate
•Severe nervous system anomaly
•Autosomal recessive
Glucose-6-Phosphate Dehydrogenase Deficiency
•Hemolytic Anemia
•Hexose monophosphate shunt defect.
•Low NADPH leads to low reduced glutathione that in turn leads to damage to RBC membrane (hemolysis)
•X-linked recessive
•Reduced RBC defense against oxidizing agents.
•X-linked
α-1, 4-Glucosidase Deficiency
•Pompe’s
•Glycogen Storage Disease Type II
•Accumulation of glycogen in liver, kidney, heart (main) and muscle
•Cardiomegaly
•Early fatality due to cardiac or respiratory failure
•Enzyme replacement therapy is available
•Autosomal recessive
Heparan N-Sulfatase Deficiency
•Sanfilippo’s Disease
•Mucopolysaccharidoses III
•Heparan accumulation
•Nervous system anomaly
•Autosomal recessive
Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
•HGPRT deficiency
•Lesch-Nyhan Syndrome
•Mental retardation
•Self-mutilation
•Purine salvage disorder
•Increased serum uric acid
•X-linked
Hexokinase Deficiency
•Hemolytic anemia
•Glycolytic anomaly
•Low 2,3 diphosphoglycerate level in the red cells
•Left shift of oxygen saturation
Hexosaminidase-A Deficiency
•Tay-Sachs Disease
•Ashkenazi Jewish
•GM2-ganglioside accumulation.
•Autosomal recessive
•Cherry-red spots
•Autosomal recessive
HMG CoA Reductase Deficiency
•Lack of cholesterol synthesis.
•Homogentisic Acid Oxidase Deficiency
•Alkaptonuria
•Tyrosine degradation anomaly
•Homogentisate accumulation
•Dark tissue coloration and arthritis
21-Hydroxylase Deficiency
•Female pseudohermaphroditism
•Male phenotype
•Most common congenital adrenal hyperplasia
•Decreased cortisol, increased ACTH and enlarged male genitalia
•Hyperkalemia, increased 17-alpha-hydroxy progesterone, increased 17-ketosteroids and 21-deoxysteroids
•Ambiguous genitalia in females
• Hypotension.
•Autosomal recessive
17-Hydroxylase Deficiency
•Congenital Adrenal Hyperplasia
•Hypertension. Sodium and water retention
•Lack of androgens
•Female phenotype exaggerated
11-Hydroxylase Deficiency
•Congenital Adrenal Hyperplasia
•Hypertension. Sodium and water retention
•Male phenotype exaggerated
•Autosomal recessive
Liver Glycogen Phosphorylase Deficiency
•Her’s Disease
•Glycogen storage disease type VI
•Glycogen accumulation in the liver
•Muscle phosphorylase is normal
•Hyperglycemia.
•Autosomal recessive
Muscle Glycogen Phosphorylase Deficiency
•McArdle’s Syndrome
•Glycogen Storage
