Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant

Description

Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.

Clinical Features

Phenotypes and symptoms related to Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant

  • Abnormality of the skin
  • Vitamin A deficiency

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypercarotenemia and vitamin A deficiency (BCO1).

By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.

BCO1
Specificity
100 %
Genes
100 %
BCO1.

By Fulgent Genetics Fulgent Genetics in United States.

BCO1
Specificity
100 %
Genes
100 %

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