Background. @entity15619 ( @entity15619 ) are a group of @entity395 in which glycosylation required for proper protein-protein interactions and protein stability is disrupted, manifesting clinically with multiple system involvement and @entity851 . The insulin-like growth factor (IGF) system plays an important role in childhood growth and has been shown to be dysfunctional with low @entity442 levels in @entity1 with @entity15619 type Ia ( @entity52631 deficiency). Case report. A 3-year-old Caucasian male with failure to thrive was diagnosed with @entity52631 - @entity15619 at 5 months of age. Initially, his length and weight were less than -2 standard deviation score, @entity442 <25 ng/mL (normal 55-327 ng/mL), @entity2301 1.0   g/mL (normal 0.7-3.6 ng/mL), and acid-labile subunit 1.3 mg/L (normal 0.7-7.9 mg/L). Despite aggressive feeding, he continued to show poor linear growth and @entity1017 . At 17 months, he underwent an @entity442 generation test with growth hormone (0.1 mg/kg/d) for 7 days; baseline @entity442 of 27 ng/mL (normal 55-327 ng/mL) stimulated to only 33 ng/mL. Recombinant @entity1 @entity442 (rhIGF-1) therapy (up to 130   g/kg/dose twice daily) was initiated at 21 months of age resulting in an excellent linear growth response with height increasing from -2.73 to -1.39 standard deviation score over 22 months. @entity442 and @entity2301 levels also increased. Conclusion. This is the first case report of rhIGF-1 therapy in a @entity1 with @entity52631 - @entity15619 . The @entity1 had an excellent linear growth response. These results provide additional in vivo evidence for IGF dysfunction in @entity52631 - @entity15619 and suggest that rhIGF-1 may be a novel treatment for @entity851 in @entity52631 - @entity15619 .

rhIGF-1 Therapy for Growth Failure and XXXX Deficiency in Congenital Disorder of Glycosylation Ia ( @entity52631 Deficiency).

@entity1 :: ('9606', 'Species') :: ['children', 'human', 'patient', 'child'] @entity851 :: ('MESH:D006130', 'Disease') :: ['growth failure'] @entity2301 :: ('3486', 'Gene') :: ['IGFBP-3'] @entity442 :: ('3479', 'Gene') :: ['IGF-1'] @entity52631 :: ('5373', 'Gene') :: ['PMM2'] @entity1017 :: ('MESH:D015430', 'Disease') :: ['weight gain'] @entity395 :: ('MESH:D035583', 'Disease') :: ['rare disorders'] @entity15619 :: ('MESH:D018981', 'Disease') :: ['CDG', 'Congenital disorders of glycosylation']
@entity442 :: (3479,Gene) :: ['IGF-1']
