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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Progeria Disease

Progeria Definition and Diagnostic Path A very rare genetic disorder, commonly called severe premature aging, that arises from a mutation in a single gene on chromosome 1 called lamin A (LMNA). The gene encodes a protein, also called lamin A, that is important for proper functioning of the membrane of the cell nucleus. In progeria this protein is abnormal, resulting in rapid […]

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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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Cystic Fibrosis – Symptoms and Treatment

Cystic Fibrosis Definition An inherited genetic disorder resulting from multiple mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, inherited as autosomal recessive mutations. Researchers believe as many as 10 million people may be cystic fibrosis carriers and unaware of it. Though researchers know of approximately 600 CFTR mutations, one mutation, called the delta F508 mutation, accounts […]

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Down Syndrome Children – Symptoms and Treatment

Down Syndrome Definition Down Syndrome is 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 21 instead of the normal single copy (as haploid cells, gametes contain one half the complement of chromosomes). At conception the zygote thus ends up with three instead of the […]

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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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