Question

Explain why the symptoms of fumarase deficiency are similar to the symptoms of a deficiency in aconitase.

Answer 1

FUMARASE deficiency

1)It affects the nervous system

2)in infants affect the brain mainly

3)here affected infants have microcephaly,loss of muscle tone,fail to gain weight

4)they experience seizures

5)adults may expeeexper frontal bosing,ocular hypertelorism,micrognathia.

6) hepatosplenomegaly liver and spleen enlargement

7) they face decrease in blood cell count polycythemia

It is FH gene deficiency disease caused due autosomal recessive inheritance

ACONITASE deficiency

Symptoms are

1)myopathy

2)succinate dehydrogenase deficiency

3)circulatory shock when exercising heavily

Caused when fe-s protein decrease s

Myopathy is common in fumarase and aconitase deficiency because when there is a mutation in FH it causes accumulation of fumarate intracellular ly which modifies cysteine to form 2 succinocysteine through succination.this succination of cysteine exerts a dose dependent inhibition action on aconitase activity.so deficiency of fumarase also leads to imhibition of aconitase activity.