Edwards Syndrome – Diagnosis, Deformities and Anomalies

Edwards Syndrome Definition Edwards syndrome – an autosomal trisomy disorder that results from a replication error during cell division in which a gamete (sex cell) ends up with two copies of chromosome 18 instead of the normal single copy (as haploid cells, gametes contain one half the complement of chromosomes). At fertilization the zygote thus ends up with three instead of the normal […]

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Fragile X Syndrome – Symptoms, Diagnosis and Treatment

Fragile X Syndrome Definition An inherited genetic disorder that results in significant intellectual impairment. Fragile X syndrome arises from a monogenic (single-gene), increased repeat mutation affecting the FMR1 gene on the X chromosome and is the leading cause of inherited intellectual impairment in males. Fragile X syndrome more severely affects males because females have a second X chromosome that can […]

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Gene Therapy – Definition and Information

Gene Therapy Definition Treatment methods, most of which remain experimental, that attempt to manipulate genetic structure or gene encoding. Gene therapy targets either germline (gamete) or somatic cells, using vectors to deliver genes within cells. Germline gene therapy aims to prevent a genetic disorder from passing to new generations, while somatic gene therapy targets genetic disorders […]

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Mitochondrial Disorders

Mitochondrial Disorders Definition Mitochondrial Disorders – inherited mutations in mitochondrial genes that result in functional disturbances in various body systems. Mitochondria are structures within the cell that generate the energy, in the form of adenosine triphosphate (ATP), the cell requires to function. A cell may contain dozens of mitochondria. Each mitochondrion contains the specific genetic material […]

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Phenylketonuria (PKU) – Symptoms and Treatment

Phenylketonuria Definition An inherited genetic disorder in which the enzyme phenylalanine hydroxylase is missing or severely deficient, preventing the metabolism of the essential amino acid (one the body must acquire from dietary sources) phenylalanine. Phenylalanine is common in all foods that contain protein (such as meats, dairy products, fish, and legumes) and in artificial sweeteners […]

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Porphyria – Symptoms and Treatment

Porphyria Definition Porphyria – The collective term for a group of eight inherited genetic disorders of metabolism in which deficiencies of certain enzymes block the production of heme and allow the accumulation of porphyrins. Heme is an iron-containing pigment normally present in nearly all tissues in the body, notably as a component of hemoglobin in the blood and of electron […]

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Syndrome horm. secr. SIADH

What is SIADH Syndrome and Definition The SIADH is characterized by enormous release of antidiuretic hormone from the posterior pituitary gland. It is the most common cause of euvolemic hyponatremia in hospitalized patients. The syndrome is associated with patients that have pneumonia, brain tumors, head trauma, strokes, meningitis, encephalitis, small-cell carcinoma of the lung, Hodgkin […]

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Tay-Sachs Disease – Symptoms and Treatment

Tay-Sachs Disease Definition An inherited genetic disorder that causes a progressive, fatal form of gangliosidosis (the accumulation of gangliosides within nerve cells). Tay-Sachs disease involves mutations of a pair of genes on chromosome 15 that encode for the enzyme hexosaminidase-A (hex-A). The mutation blocks production of hex-A. The body requires hex-A to metabolize GM2 ganglioside, a fatty acid […]

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Hemophilia Disease – Symptoms and Treatment

Definition of Hemophilia A group of inherited genetic disorders in which certain clotting factors are deficient or absent, resulting in clotting dysfunction. People who have hemophilia tend to bleed easily and longer than normal. Some forms of hemophilia carry substantial risk for life-threatening hemorrhage (bleeding). Types of Hemophilia Doctors classify hemophilia according to the deficient clotting factor, which may […]

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Von Willebrand’s Disease – Symptoms and Treatment

Definition of Von Willebrand’s Disease A hereditary, genetic bleeding disorder resulting from a deficiency or molecular abnormality of clotting factor VIII. Unlike hemophilia A, which also results from clotting factor VIII deficiency, von Willebrand’s disease affects both men and women equally. Its inheritance pattern is autosomal dominant, meaning a child can acquire the condition when […]

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