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, ac...

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Bibliographic Details
Published in:European journal of pediatrics 1985-07, Vol.144 (2), p.174-176
Main Authors: LEITITIS, J. U, STAHL, M, TACKMANN, W, WICK, H, WILDBERG, A
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Child
Child, Preschool
Diet
Female
Homozygote
Humans
Hypobetalipoproteinemias - blood
Hypobetalipoproteinemias - complications
Hypobetalipoproteinemias - genetics
Hypolipoproteinemias - genetics
Infant
Male
Medical sciences
Metabolic diseases
Pedigree
Phenylketonurias - complications
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Description
Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF00451908