Thalassemia (alpha/beta) Disease – Symptoms and Treatment

Definition of Thalassemia alpha/beta Disease A genetic disorder of the blood in which the body fails to produce one or more of the proteins necessary for the synthesis of hemoglobin, the protein that enables erythrocytes (red blood cells) to carry oxygen. The consequence is anemia (inadequate oxygen to the cells throughout the body). There are two basic […]

Read More

Patau’s syndrome – Trisomy 13 – definition

Patau’s syndrome Definition Patau’s 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 13 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 normal two […]

Read More

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 […]

Read More

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 […]

Read More

Alport’s Syndrome – Definition, Symptoms and Treatment

Definition of Alport’s Syndrome Alport’s Syndrome – An inherited genetic disorder in which one, two, or three mutations occur in the GENE that encodes type IV collagen formations, also called basement membranes. The mutations affect up to three of the six protein chains (alpha-3, alpha-4, and alpha-5) that make up type IV collagen, which is […]

Read More

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 […]

Read More

Cystinuria – definition, diagnosis, symptoms and treatment

Definition of Cystinuria Cystinuria is an inherited genetic disorder in which the KIDNEYS do not properly reabsorb amino acids collectively called cystine. The excessive excretion of cystine to the URINE causes crystalline calcifications, commonly called stones, to form in the kidneys, ureters, and BLADDER. Most people learn they have the GENE MUTATION, which is autosomal recessive, during analysis of the calcifications. […]

Read More

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 […]

Read More

Renal Tubular Acidosis (RTA) – Definition and Information

Definition of Renal Tubular Acidosis (RTA) Renal Tubular Acidosis – A genetic disorder in which the renal tubule within the NEPHRON fails to release hydrogen ions into the filtrate. The consequence is a buildup of acid in the BLOOD (serum acidosis) that causes various symptoms and imbalances among the body’s electrolytes. There are numerous forms of […]

Read More

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 […]

Read More