Disorders of carbohydrate metabolism
Autosomal recessive conditions.
Often presenting with one or more of the following—episodic hypoglycaemia;
lactic acidosis; poor growth and hypotonia; mental retardation/developmental
delay; and vomiting; cramps, myoglobinuria, and muscle weakness.
Specific
enzyme defects preventing mobilization
of glucose from glycogen, and resulting in abnormal storage in liver and/or
muscle (see Table 26.2).
Fructose-1-phosphate
aldolase deficien-cy. Failure to thrive; hypoglycaemia; metabolic/lactic
acidosis; vomiting; GI bleeding.
Galactose-1-phosphate
uridyltransferase deficiency. Failure to thrive; cata-racts; hepatomegaly;
jaundice, vomiting and diarrhoea; mental retardation (if untreated). Treatment
with galactose-free diet.
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