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glucose, ketoacidosis
occur due to uncontrolled diabetes type 1 and…
glucose
glucose 6 p
fructose 6-p
fructose 1,6 bis p
dihydroxyacetone 3 p
glyceraldehyde 3-p
1,3-Bisphosphoglycerate
3-phosphoglycrate
2-phosphoglycrate
phosphenolpyruvate
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glycogen storage disease
TYPE 1 a vongierke disease (glucose 6 phosphate deficiency)
type 1 b (glucose 6-phosphate translocase deficiency)
type 2 pompe disease (lysosomal 1>4 glucosidase deficiency)
type 3 cori disease (4:4 transverse amylo a- 1>6 glucosidase)
type 5 Mcardle disease (myophosphorylase deficiency)
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classic galactosemia
-galactose 1-phosphate uridylytransferase deficiency
-causing galactosemia and galactosuria
-causing accumulation of galactose 1-phosphate and galactitol
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galactokinase deficiency
causing galactosemia and galactosuria
if galactose is in diet it cause galatitol accumulation
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hereditary fructose intolerance
caused by deficiency of aldolase B and cause intracellular trapping of fructose 1-p
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citrullinemia
accumulation of ammonia and other toxic substances in blood due to mutation in gene of argininosuccinate synthase 1
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phenylketonuria
caused by increase the level of phenylalanine in the blood due to mutation in gene of phenylalanine hydroxylase
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tyrosinemia
has 3 types all are due to genetic mutations
in the liver tyrosine is broken down through 5 steps resulting substances that can't be excreted or be used as energy or to produce other molecules
type 1 : result from mutation in gene for fumarylacetoacetate hydrolase
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pyruvate dehydrogenase deficiency
in ability to convert pyruvate to acetyl CoA and it's the most common cause of congenital lactic acidosis
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thiamine or niacin deficiency
may cause CNS problems as brain cells can't produce ATP due to inactivity of PDH and cause wernicke korsakoff and seen with alcohol abusers
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cystic fibrosis
is due to mutation foe CFTR protein that work as chloride channel on pancreas, lungs, sweat glands and tests and this lead to decrease chloride secretion and increase sodium and water uptake and this lead to thickened mucus clogging pancreatic ducts
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carnitine deficiency
primary caused by defect in membrane transporter so there is no carnitine uptake and so excreted
secondary is due to defect in fatty acid oxidation causing accumulation of acylcarnitine that will excreted in urine and ddecrease carnitine availability
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maple syrup urine disease
the body is unable to break down essential amino acid leucine and isoleucine and valine due to mutation in genes that express protein complex of breaking amino acid and this disease characterized by the sweet odour of affected infant's urine
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