Main clinical features
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defective transport of cationic amino-acids with short stature, failure to thrive, hepatomegaly, osteoporosis, hypotonia, developmental delay, pulmonary insufficiency or end-stage renal disease
symptoms begin after weaning with refusal of feeding, vomiting, and consequent failure to thriv; hepatosplenomegaly, hematological anomalies, neurological involvement, including hyperammonemic coma are recurrent clinical features (PMID: 21308987))
due to defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney
two-thirds of the patients have interstitial changes in chest radiographs, sometimes with acute or chronic respiratory insufficiency that can lead to fatal pulmonary alveolar proteinosis and multiple-organ dysfunction syndrome (Font-Llitjós 2009) |