European Journal of Pediatrics

, Volume 144, Issue 2, pp 174–176 | Cite as

Homozygous hypobetalipoproteinaemia and phenylketonuria

  • J. U. Leititis
  • M. Stahl
  • W. Tackmann
  • H. Wick
  • A. Wildberg


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.

Key words

Hypobetalipoproteinaemia Abetalipoproteinaemia Phenylketonuria 







familial hypobetalipoproteinaemia


homozygous hypobetalipoproteinaemia


medium chain triglyceride


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Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • J. U. Leititis
    • 2
  • M. Stahl
    • 1
  • W. Tackmann
    • 4
  • H. Wick
    • 3
  • A. Wildberg
    • 2
  1. 1.Department of PediatricsCity Hospital of LörrachFederal Republic of Germany
  2. 2.Center of Pediatrics, Philipps-University of MarburgFederal Republic of Germany
  3. 3.Children's HospitalUniversity of BaleSwitzerland
  4. 4.Department of NeurologyUniversity of BonnFederal Republic of Germany

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