Homozygous hypobetalipoproteinaemia and phenylketonuria.
Two patients, aged 0.1 and 2 years, with homozygous hypobetalipoproteinaemia, one with PKU in addition are described. The clinical evaluation showed no neurologic abnormalities. Treatment with a fat-reduced, protein and carbohydrate-enriched diet was combined with vitamin A and E supplementation, according to the suggestions for classical abetalipoproteinaemia. In the patient with PKU the protein intake was increased by using a phenylalanine-free, amino acid mixture. Only by this, were normal growth and weight gain achieved.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D004032:Diet; D005260:Female; D006720:Homozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood / Q000150:complications / Q000235:genetics*; D007009:Hypolipoproteinemias / Q000235:genetics*; D007223:Infant; D008297:Male; D010375:Pedigree; D010661:Phenylketonurias / Q000150:complications*