Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica-like syndrome.
We present two patients with a suspected inborn error of metabolism. A female newborn presented with dysmorphic features and convulsions. Metabolic screening suggested a defect in isoleucine degradation. Within 2 weeks after the introduction of an isoleucine-restricted diet, she developed a severe acrodermatitis enteropathica-like syndrome. The plasma level of isoleucine was low with a normal leucine/isoleucine ratio. The second patient, a female infant deficient in leucine as a result of a leucine-restricted diet, did not develop a dermatosis. Isoleucine is essential for normal growth and differentiation of keratinocytes and enterocytes. Deficiency of isoleucine, and not leucine or an imbalance in the leucine/isoleucine ratio, may result in an acrodermatitis enteropathica-like syndrome.
Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
A M
AM
Bosch
J H
JH
Sillevis Smitt
A H
AH
Van Gennip
N G
NG
Abeling
R B
RB
Schutgens
H D
HD
Bakker
F A
FA
Wijburg
D000169:Acrodermatitis / Q000209:etiology* / Q000473:pathology; D003968:Diarrhea, Infantile / Q000209:etiology; D005260:Female; D006801:Humans; D007049:Iatrogenic Disease; D007231:Infant, Newborn; D007532:Isoleucine / Q000172:deficiency*; D013577:Syndrome
D007532:Isoleucine