Question

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

Answer 1

Fumarase deficiency sign and symptoms-

Fumarase deficiency may cause a small head ( microcephaly ), developmental delay, weak muscle tone or hypotonia, seizures, and distinctive facial features.

Most people with this deficiency are not able to speak or walk.

Aconitase deficiency sign and symptoms-

• Exercise intolerance - severe
• Myopathy
• Aconitase deficiency
• Heart palpitations on exercise
• Muscle hardness on exercise
• Muscle cramps on exercise
• Muscle tenderness on exercise
• Lactic acidosis on exercise
• Breathing difficulty on exercise
• Muscle pain if done heavy exercise
• Muscle weakness when heavily exercising
• Muscle swelling when heavily exercising

Why fumarase and aconitase deficiency symptoms are similar

the mechanism of aconitase is catalyses the conversion of citrate or isocitrate to aconitate or reverse reaction. And This is similar to the reaction, catalysed by fumarase, which is the removal of water or reversible addition and convert fumarate to malate.

Both are catalyse the citric acid cycle or kreb’s cycle .so both deficiency are responsible to chronic fatigue and psoriasis.