ABSTRACT
Most infants present with failure to thrive (Figures 35.2-35.4) [4]. There may be alopecia. Subcutaneous fat is diminished or absent, and the skin folds loose. Associated diarrhea may suggest a malabsorption syndrome. Skin lesions may resemble those of kwashiorkor or acrodermatitis and zinc deficiency (Figures 35.2, 35.3). A dry scaly rash is sometimes seen and sores on the sides of the mouth [12]. Dystrophic nails may
Lys
Lys-Gly
Lys-Gly
Lys-Gly
Lys-Gly
Gly
Lys Gly Gly
Lys Gly
Luminal membrane
Basolateral membrane
Lysinuric protein intoleranceNormal
contribute to the picture of acrodermatitis enteropathica (Figure 35.4). A 5-year-old boy with chronic diarrhea and pitting edema of the lower extremities was thought to have celiac disease because villous atrophy was found on intestinal biopsy [12]. There was no improvement with a gluten free diet. There is usually some hepatomegaly. The spleen may be palpable. Body weight is reduced, and linear growth falls off. Of 20 Finnish patients [6], 16 had heights that were 2 to 6 SDs below the mean. Head circumference is normal. Skeletal maturation is usually delayed. Anemia is the rule, and leukopenia is common.
