Lactate dehydrogenase B deficiency

How is lactate dehydrogenase B deficiency diagnosed?

Lactate dehydrogenase B deficiency (LDHBD) is typically diagnosed after routine blood tests show reduced lactate dehydrogenase (LDH) activity in serum and/or red blood cells. A person has LDHBD when more specific testing shows absent or decreased levels of the LDH sub-unit H(B). This means that people with LDHBD may have either complete absence of this sub-unit, or a marked deficiency of the sub-unit.

We are not aware of guidelines outlining the specific levels of LDH or the sub-unit considered diagnostic for LDHBD. In one article, the levels of serum LDH that were reported in affected people ranged from 33 to 89 units per liter (U/L), with a normal range being considered 290-540 U/L. However, normal value ranges often vary among different laboratories, and some labs use different measurements or test different types of samples. Therefore, people should speak with their health care provider about the meaning of their specific results.

Last updated on 05-01-20

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