Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis

• Main Authors: Morriss Michael C (Author), Moore Warren H (Author), Baker Susan S (Author), Taylor William (Author), Reid Barbara (Author), Belmont John W (Author), Podrebarac Susan M (Author), Glass Nancy (Author), Schwartz I David (Author)
• Format: Book
• Published: BMC, 2002-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Disaccharide Intolerance Type I (Mendelian Interance in Man database: *222900) is a rare inborn error of metabolism resulting from mutation in sucrase-isomaltase (Enzyme Catalyzed 3.2.1.48). Usually, infants with SI deficiency come t...