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
Article

Abstract

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 

Abbreviations

PKU

phenylketonuria

ABL

abetalipoproteinaemia

FHBL

familial hypobetalipoproteinaemia

HHBL

homozygous hypobetalipoproteinaemia

MCT

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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