Abstract |
Retinol-binding protein (RBP) is a plasma protein with a molecular weight of 21,000 synthesized in the hepatocytes, binding with retinol ( vitamin A), and transporting retinol to peripheral tissues. Keratomalacia is caused by a deficiency of vitamin A itself and/or protein-calorie malnutrition. In the latter condition, production of RBP is inhibited. We report herein familial hypo- retinol-binding proteinemia in a child aged 19 months who developed keratomalacia during measles infection in spite of good nourishment. To the best of our knowledge this is the first description of such a case. The patient, her sister and mother showed persistent low levels, about half the normal levels, of retinol and RBP which were unresponsive to oral vitamin A and protein-rich diet. They had normal liver function tests, normal serum levels of other proteins and fat-soluble vitamins and lipids. This hypo- retinol-binding proteinemia was thought to predispose the child to develop keratomalacia during measles. Family members would be heterozygous with one normal RBP gene and one defective RBP gene.
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Authors | T Matsuo, N Matsuo, F Shiraga, N Koide |
Journal | Japanese journal of ophthalmology
(Jpn J Ophthalmol)
Vol. 32
Issue 3
Pg. 249-54
( 1988)
ISSN: 0021-5155 [Print] Japan |
PMID | 3148050
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Retinol-Binding Proteins
- Retinol-Binding Proteins, Plasma
- Vitamin A
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Topics |
- Child
- Corneal Diseases
(etiology)
- Female
- Genes, Dominant
- Heterozygote
- Humans
- Infant
- Measles
(complications)
- Pedigree
- Protein-Energy Malnutrition
(complications, genetics)
- Retinol-Binding Proteins
(deficiency)
- Retinol-Binding Proteins, Plasma
- Vitamin A
(therapeutic use)
- Vitamin A Deficiency
(complications, genetics)
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