Marble brain syndrome: osteopetrosis
, renal acidosis and calcification of the brain.
Unfortunately, there is no effective medical management for osteopetrosis
, but the treatment usually involves offering support for the management of symptomatic complications.
The fact that the exact same gene in mice was responsible for the osteopetrosis
mutation confirmed the findings in Red Angus.
Healthy bones need to be constantly formed and broken down but sufferers of osteopetrosis
can't do this.
14,15) This causes a lack of functioning mature osteoclasts and eventually causes osteopetrosis
Boehringer Ingelheim and InterMune plan to immediately seek expedited EU approvals for Imukin(R) for the treatment of severe, malignant osteopetrosis
, an indication for which ACTIMMUNE(R) is already approved in the United States.
But, to everyone's relief, she was clear of osteopetrosis
Finally the couple were told the devastating news - their daughter had osteopetrosis
, or marble bone disease.
The loci of malignant osteopetrosis
should fall on a homozygous chromosomal region because the parents are consanguineous.
and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family.
She said doctors are also considering giving the tot, from Alum Rock, a series of injections that can delay the spread of her condition, a rare and hereditary bone disorder called alignant infantile osteopetrosis
, which affects around one in 500,000 babies.
Sandwich vertebrae" (Figure 4) occur in patients with osteopetrosis
, a hereditary bone disorder due to deficient osteoclast activity.