Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein

Two German sisters aged 14 and 17 y were admitted to the Tübingen eye hospital with a history of night blindness. In both siblings, plasma retinol binding protein (RBP) concentrations were below the limit of detection (

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Bibliographic Details
Published in:The American journal of clinical nutrition 1999-05, Vol.69 (5), p.931-936
Main Authors: Biesalski, Hans K, Frank, Jürgen, Beck, Susanne C, Heinrich, Felix, Illek, Beate, Reifen, Ram, Gollnick, Harald, Seeliger, Mathias W, Wissinger, Bernd, Zrenner, Eberhart
Format: Article
Language:English
Subjects:
Adolescent
alleles
amino acid sequences
Base Sequence
binding proteins
Biochemistry
Biological and medical sciences
blood chemistry
deficiency diseases
Exons
Female
Genes
genetic disorders
genomic sequence analysis
girls
Humans
Medical sciences
Metabolic diseases
Molecular Sequence Data
Mutation
night blindness
Nuclear Family
nucleotide sequences
nutrient deficiencies
Nutrition
Other nutritional diseases (malnutrition, nutritional and vitamin deficiencies...)
Point Mutation
polymerase chain reaction
Prealbumin - chemistry
Prealbumin - genetics
Proteins
Retina
retinol
Retinol binding protein
Retinol-Binding Proteins - genetics
Retinol-Binding Proteins - metabolism
Retinol-Binding Proteins, Plasma
retinyl esters
transthyretin
Vitamin A
Vitamin A - analogs & derivatives
Vitamin A - blood
Vitamin A - pharmacology
vitamin A deficiency
Vitamin A Deficiency - blood
Vitamin A Deficiency - genetics
Vitamin A Deficiency - metabolism
Zinc - blood
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Description
Summary:Two German sisters aged 14 and 17 y were admitted to the Tübingen eye hospital with a history of night blindness. In both siblings, plasma retinol binding protein (RBP) concentrations were below the limit of detection (
ISSN:0002-9165
1938-3207
DOI:10.1093/ajcn/69.5.931