L-arginine amidinohydrolase |
larval hemolymph protein 76 |
Engrailed homeobox 2 |
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abbr. LTD. A congenital autosomal recessive disorder characterized by a general retardation of growth, obesity, and a number of other disorders. Associated endocrinological disorders include hypoglycemia and abnormal concentrations of free fatty acids. Affected patients also show enhanced serum levels of Growth hormone and markedly decreased levels of IGF-1 (see: IGF) the synthesis of which is regulated normally by growth hormone.
The underlying genetic defect of this "growth hormone resistance" are partial deletions, stop codons, and missense mutations in the gene encoding the growth hormone receptor on human chromosome 17. Most of these patients also lack a 150 kDa IGF-1
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