Maple syrup urine disease, BCKDHA-related, cattle

MONDO:1010700

Hereditary progressive neurological disease, resulting in death within a few days of birth due to a deficiency of activity of the mitochondrial enzyme branched-chain alpha-keto acid dehydrogenase (BCKADH) leading to elevated concentrations of branched chain alpha-keto acids and their precursors, the branched chain amino acids, valine, leucine and isoleucine in blood and tissues in cattle due to a variation in the BCKDHA gene.

0 clinical trials for this condition and its sub-types, 0 tagged with Maple syrup urine disease, BCKDHA-related, cattle itself.

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↑ Hereditary disease, non-human animal (9) ↑ Metabolic disease, non-human animal (9)

Including sub-types (0) Tagged with Maple syrup urine disease, BCKDHA-related, cattle (0)

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