Congenital disorders of glycosylation (CDG) are a growing group of inherited 
metabolic disorders where enzymatic defects in the formation or processing of 
glycolipids and/or glycoproteins lead to variety of different diseases. The 
deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, encoded by the 
human ortholog of ALG1 from yeast, is known as ALG1-CDG (CDG-Ik). The 
phenotypical, molecular and biochemical analysis of a severely affected ALG1-CDG 
patient is the focus of this paper. The patient's main symptoms were feeding 
problems and diarrhea, profound hypoproteinemia with massive ascites, muscular 
hypertonia, seizures refractory to treatment, recurrent episodes of apnoea, 
cardiac and hepatic involvement and coagulation anomalies. Compound 
heterozygosity for the mutations c.1145T>C (M382T) and c.1312C>T (R438W) was 
detected in the patient's ALG1-coding sequence. In contrast to a previously 
reported speculation on R438W we confirmed both mutations as disease-causing in 
ALG1-CDG.