Von Gierke’s Disease: glucose-6-phosphatase deficiency
Severe fasting hypoglycemia, lactic acidosis, Hyperuricemia, Hepatomegaly, Ketosis, hyperlipidemia.
Severe fasting hypoglycemia, lactic acidosis, Hyperuricemia, Hepatomegaly, Ketosis, hyperlipidemia.
Medium-chain Acyl co A Dehydrogenase (MCAD)
deficiency: severe fasting hypoglycemia, No ketosis, Dicarboxylic Acidosis
deficiency: severe fasting hypoglycemia, No ketosis, Dicarboxylic Acidosis
Pompe’s Disease: (Pump - heart) – lysosomal alfa-1,4 glucosidase deficiency
Cardiomegaly (death by 2 yrs.)
Glycogen like material in inclusion bodies.
Cardiomegaly (death by 2 yrs.)
Glycogen like material in inclusion bodies.
McArdle’s Disease: (Muscle) muscle glycogen phosphorylase deficiency
Muscle cramps & weakness on exercise
Glycogen present in muscle biopsy
Muscle cramps & weakness on exercise
Glycogen present in muscle biopsy
Myopathic Carnitine Deficiency: carnitine deficiency in muscle
Muscle cramps & weakness on exercise
Triglycerides (TGs) present in muscle biopsy
Muscle cramps & weakness on exercise
Triglycerides (TGs) present in muscle biopsy
Her’s Disease: (Hepatic) hepatic glycogen phosphorylase deficient
Mild fasting hypoglycemia, Hepatomegaly
Mild fasting hypoglycemia, Hepatomegaly
Cori’s Disease: debranching enzyme deficiency
Short outer branches, single glucose residue at outer branch
Short outer branches, single glucose residue at outer branch
Anderson’s (Amylopectinosis): branching enzyme deficiency
Very few branch toward periphery.
Infantile hypotonia, cirrhosis, death by 2 yrs.
Very few branch toward periphery.
Infantile hypotonia, cirrhosis, death by 2 yrs.
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