G6PD Deficiency – Symptoms

G6PD Deficiency Definition G6PD Deficiency – an inherited genetic disorder in which the body lacks the enzyme glucose-6-phosphate dehydrogenase (G6PD). Erythrocytes (red blood cells) normally produce G6PD, which aids in metabolizing carbohydrates and also helps to protect erythrocytes from oxidation (damage resulting from metabolic waste). The absence of G6PD causes health problems when the body experiences unusual stress, […]

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Genetic Disorders in Humans – List and Definition

Genetic Disorders Definition Genetic Disorders is a collective classification for syndromes, diseases, and congenital anomalies that result from alterations of the genes and chromosomes.There are four general categories of genetic disorders, each relating to the way in which the alterations manifest. Chromosomal Disorders The normal human genome contains 23 paired chromosomes. Chromosomal disorders occur when there are disruptions in […]

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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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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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Mosaicism – Definition and Information

Mosaicism Definition A chromosomal disorder in which some cells are normal and some cells contain the chromosomal abnormalities of the disorder, in contrast to a complete distribution of the abnormal chromosomes throughout all cells. The distribution of abnormal cells in mosaicism is usually random and unpredictable. Mosaicism most commonly occurs in autosomal trisomy, in which there is […]

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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 […]

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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 […]

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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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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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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 […]

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