Related Experiment Video
Updated: Mar 15, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
Published on: December 15, 2011
Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica
Benjamin Ross1, Manish Kumar, Hema Srinivasan
1Departments of Neonatology, *Pediatrics and #Clinical Genetics Unit,Christian Medical College, Vellore, Tamilnadu, India. Correspondence to: Dr Benjamin Ross, Department of Neonatology, Christian Medical College, Vellore 632 004, Tamilnadu, India. benjaminross@cmcvellore.ac.in.
Background:
Special diet with restricted branched-chain-amino-acids used for treating maple syrup urine disease can lead to specific amino acid deficiencies.
Case Characteristics:
We report a neonate who developed skin lesions due to isoleucine deficiency while using specialised formula.
Intervention/Outcome:
Feeds were supplemented with expressed breast milk. This caused biochemical and clinical improvement with resolution of skin lesions.
Message:
Breast milk is a valuable and necessary adjunct to specialized formula in maple syrup urine disease to prevent specific amino acid deficiency in the neonatal period.
Related Concept Videos
Inborn Errors of Metabolism
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:

