Don’t fight Lactate dehydrogenase B deficiency alone.Find your community on the free RareGuru App.
Lactate dehydrogenase B deficiency (LDHBD) is a condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.
Source: GARD Last updated on 05-01-20
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
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!