BIOCHEMISTRY DISORDERS Flashcards
1
Q
galactose deficiency
classic galactosemia
sorbitol
lactose deficiency
A
disorders of galactose metabolism
2
Q
hyperammonemia
ornithine transcarbamylase deficiency
A
disorders of urea
3
Q
phenylketonuria maple syrup urine disease aklaptonuria homocystinuria cystinuria organic acidemias
A
other metabolic pathway disorders
4
Q
von Gierke disease, I
pompe disease, II
cori disease, III
mcardle disease, V
A
glycogen storage diseases
5
Q
tay sachs disease fabry disease metachromatic leukodystrophy krabbe disease gaucher disease niemann pick disease
A
sphingolipidoses, lysosomal storage diseases
6
Q
hurler syndrome
hunter syndrome
A
mucopolysaccharidoses, lysosomal storage diseases
7
Q
essential fructosuria
hereditary fructose intolerance
A
disorders of fructose metabolism
