Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica.

Abstract

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.

• Authors: Benjamin Ross, Manish Kumar, Hema Srinivasan, Alka V Ekbote
• Journal: Indian pediatrics (Indian Pediatr) Vol. 53 Issue 8 Pg. 738-40 (Aug 08 2016) ISSN: 0974-7559 [Electronic] India
• PMID: 27567652 (Publication Type: Case Reports, Journal Article)

Chemical References

• Isoleucine
• Zinc

Topics

• Acrodermatitis
• Breast Feeding
• Diagnosis, Differential
• Humans
• Infant Formula
• Infant, Newborn
• Isoleucine (administration & dosage, deficiency)
• Maple Syrup Urine Disease (diet therapy, genetics, physiopathology)
• Zinc (deficiency)