Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.

@article{Whyte2010ElevatedSL,
  title={Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Sch{\"o}nberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders.},
  author={Michael P Whyte and Lydia G Kempa and W Howard Mcalister and Fan Zhang and Steven R. Mumm and Deborah Wenkert},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2010},
  volume={25 11},
  pages={2515-26}
}
Osteopetrosis (OPT) refers to the consequences of generalized failure of skeletal resorption during growth. Most cases are explained by loss-of-function mutation within the genes that encode either chloride channel 7 (CLCN7) or a vacuolar proton pump subunit (TCIRG1), each compromising acid secretion by osteoclasts. Patients suffer fractures and sometimes cranial nerve entrapment and insufficient medullary space for hematopoiesis. In 1996, we reported that a high serum level of the brain… CONTINUE READING

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