Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature.

ABSTRACT:

Background

Lysinuric protein intolerance (LPI; MIM# 222700) is a rare metabolic disorder caused by a defective cationic amino acids (CAA) membrane transport leading to decreased circulating plasma CAA levels and resulting in dysfunction of the urea cycle. Short stature is commonly observed in children with LPI and has been associated with protein malnutrition. A correlation between LPI and growth hormone deficiency (GHD) has also been postulated because of the known interaction between the AA arginine, ornithine, and lysine and growth hormone (GH) secretion. Our report describes a case of GHD in an LPI patient, who has not presented a significant increase in growth velocity with recombinant-human GH (rhGH) therapy, suggesting some possible pathogenic mechanisms of growth failure.

SUBMITTER: Evelina M 

PROVIDER: S-EPMC4501240 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature