Retinitis pigmentosa is a genetically determined degeneration of the retina, in which the photoreceptors of the eyes perish bit by bit and thus in the late course of the disease usually complete blindness occurs. Frequently, this phenomenon is only one symptom of several and, together with the respective accompanying symptoms, forms an entire symptom complex, … Retinitis Pigmentosa: Causes, Symptoms & Treatment
If a pretty girl walks by, you may hear many an admirer say: “That’s my blood type all over!”. Well, the probability that one has at least something in common with the beautiful stranger, namely the blood group, is not so small at first glance. There are only four blood groups, and the beauty must … Rhesus Factor: Function & Diseases
DNA is the German abbreviation for deoxyribonucleic acid. It is three-dimensionally strucrurated compounds built from numerous equal parts, from which chromosomes, mitochondria and chiroplasts develop. Thus, DNA testing is determining, examining or breaking down the genetic makeup of a human or animal. What is a DNA test? DNA test is also called DNA test, genetic … DNA Test: Treatment, Effect & Risks
Griscelli syndrome is an autosomal recessive inherited pigmentary disorder of the skin and hair, of which three different manifestations, type 1 to type 3, are known. Each type of the inherited disorder is caused by mutations at different genes and is associated to varying degrees with concomitant spleen and liver enlargement, decreased neutrophil granulocyte counts, … Griscelli Syndrome: Causes, Symptoms & Treatment
Tall stature or large stature (macrosomia) can be a familial variant, but also a serious disease. Tumors or various hereditary factors are the cause. Medical help is recommended in any case of tall stature. What is high growth? High growth is defined by medical experts based on a body length that is above the 97th … Tall Growth: Causes, Symptoms & Treatment
Nucleic acids are composed of a string of individual nucleotides to form macromolecules and, as the main component of genes in cell nuclei, are carriers of hereditary information, and they catalyze many biochemical reactions. The individual nucleotides each consist of a phosphate and a nucleic base moiety as well as the pentose ring molecule ribose … Nucleic Acids: Function & Diseases
Biotinidase deficiency is a very rare inherited metabolic disorder. It occurs due to a genetic defect in the enzyme biotinidase. About one in 80,000 children is born with such an enzyme disorder. Newborn screening helps to make the diagnosis. What is biotinidase deficiency? Biotinidase deficiency, or BTD for short, belongs to the group of rare … Biotinidase Deficiency: Causes, Symptoms & Treatment
