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Inborn in Medical Dictionary

Inborn errors

... inborn errors of metabolism Definition: inborn errors of metabolism are rare genetic ... ( metabolize food ) normally. Many of the inborn errors of metabolism in young infants cause ...

Metabolism

... the Doctor Forums ] ... Enzymatic Disorders ( inborn Errors of Metabolism ) Failure to Gain Weight ( ... the first 30 days of life nor does it include inborn errors of metabolism . Both HEREDITARY DISEASE S and METABOLISM , inborn ERRORS are available as general concepts. ...

Albinism

... lectures in 1908 Garrod set forth the charter group of what he called " inborn errors of metabolism ." The 4 conditions he labeled as inborn errors were albinism , cystinuria , pentosuria and, of course, ...

Cystinuria

... lectures in 1908 Garrod set forth the charter group of what he called " inborn errors of metabolism ." The 4 conditions he labeled as inborn errors were albinism , cystinuria , pentosuria and, of course, ...

Enzyme

... Archibald Garrod first attributed a disease to an enzyme defect: an inborn error of metabolism . ENZYME -LINKED IMMUNOABSORB ENT ASSAY - The ... can be congenital due to inherited enzyme abnormality ( METABOLISM , inborn ERRORS ) or acquired due to disease of an endocrine organ or failure ...

Acid

... nucleic acids (such as RNA and DNA). ^ Top ... Amino acid disorder screening is done in newborns, and sometimes children and adults, to detect inborn errors in metabolism of amino acid s . Twenty of the 100 known amino acid s are the main building blocks for human protein s. Amino acid ...

Alpha1-antitrypsin deficiency

... Other causes (24%), including bronchiectasis and sarcoidosis ... Other genetic conditions associated with liver cancer include several inborn errors of metabolism such as tyrosinemia , glycogen storage disease type I, galactosemia , and alpha1-antitrypsin deficiency . ...

Aminoaciduria

... Aminoaciduria Definition: The aminoaciduria test screens for increased levels of amino acid excretion in the urine that indicates possible inborn errors of metabolism caused by a specific enzyme deficiency . Aminoaciduria The abnormal presence of amino acids in the urine . ...

Amino acids

... liver to glucose (for use by the brain). Amino acid disorder screening is done in newborns, and sometimes children and adults, to detect inborn errors in metabolism of amino acids . Twenty of the 100 known amino acids are the main building blocks for human protein s. It also ...

Beta

... Beta -Glucosidase Deficiency (Gaucher Disease ) Complete Androgen Insensitivity Syndrome ( Testicular Feminization ) Enzymatic Disorders ( inborn Errors of Metabolism ) Familial Combined Hyperlipidemia Familial Hypercholesterolemia ... Beta Carotene Based on solid evidence, ...

Bipolar disorder

... , including bipolar disorder . Manic Depression ( Bipolar Disorder ) Maple Sugar Urine Disease (MSUD) - Nutrition al Considerations ( inborn Errors of Metabolism ) Maple Syrup Urine Disease Marfan Syndrome Margarine vs. Butter ... MANIC DEPRESSION ( Bipolar Disorder ; Mania ) ...

Branchial cleft cyst

... error in the development of the neck. Brainstem Glioma ( Posterior Fossa Tumor ) Branched Chain Ketoaciduria - Nutrition al Considerations ( inborn Errors of Metabolism ) Branchial Cleft Cyst (Cleft Sinus ) Breakbone Fever ( Dengue Fever ) Breast - Premenstrual Tenderness and Swelling ....

Bulimia nervosa

... ) Celiac Disease CF ( Cystic Fibrosis ) Chinese Restaurant Syndrome CRS (Chinese Restaurant Syndrome ) Cystic Fibrosis Enzymatic Disorders ( inborn Errors of Metabolism ) ... Eating disorders , such as anorexia nervosa , bulimia nervosa , and binge eating , affect over five million ...

Deficiency

... /GERD Medications Understanding Insomnia Medications ... sucrase-isomaltase deficiency A genetic metabolic disorder characterized by an inborn deficiency of the enzyme sucrase-isomaltase. This deficiency causes diarrhea if table sugar ( sucrose ) or certain other carbohydrates ...

Fasting

... Glucose Tolerance (Pre- Diabetes ) Impaired Vision (Visual Impairment) Impetigo Impotence (Erectile Dysfunction) Im pulse -Control Disorders inborn Errors of Metabolism Incompetent Cervix ... Causes are famine, fasting , malnutrition , or abnormalities of the mucosa l lining of the ...

Fetal development

... may experience abnormal fetal development that affects the areas of the brain controlling attention and movement . Genetic Disease s, inborn - Disease s that are caused by genetic mutation s present during embryo or fetal development , although they may be observed later in life. The ...

Fetal

... tumor s may be benign or malignant, and include neuroblastoma s and Wilms’ tumor s. Also called embryoma. embryonic ... Genetic Disease s, inborn - Disease s that are caused by genetic mutation s present during embryo or fetal development , although they may be observed later in life. ...

Fetal

... tumor s may be benign or malignant, and include neuroblastoma s and Wilms’ tumor s. Also called embryoma. embryonic ... Genetic Disease s, inborn - Disease s that are caused by genetic mutation s present during embryo or fetal development , although they may be observed later in life. ...

Food poisoning

... to Thrive ) Gaucher Disease Gluten Intolerance ( Celiac Disease ) Gluten-Sensitive Entero pathy ( Celiac Disease ) Hyperorexia ( Bulimia ) inborn Errors of Metabolism Infant ile Gaucher Disaese (Gaucher Disease ) ... Food poisoning has often been blamed on contaminated potato salad ...

Galactosemia

... which then reaches high levels in the body, causing damage to the liver , ... Galactosemia Galactosemia - Nutrition al Considerations ( inborn Errors of Metabolism ) Galactosemia Screen ( Galactose -1-Phosphate Uridyltransferase) Galactosylcereamidase Deficiency ( Krabbe Disease ) ...

Genetic

... now recognised as being one of the most common genetic disorders . The process of inheritance is autosomal recessive . Genetic Disease s, inborn - Disease s that are caused by genetic mutation s present during embryo or fetal development , although they may be observed later in life. The ...

Glucose

... Glucose Tolerance (Pre- Diabetes ) Impaired Vision (Visual Impairment) Impetigo Impotence (Erectile Dysfunction) Im pulse -Control Disorders inborn Errors of Metabolism Incompetent Cervix ... A small amount of radionuclide glucose ( sugar ) is injected into a vein . The PET scanner ...

Hermaphroditism

... by male hermaphroditism , primary amenorrhea , ... Male Pseudo hermaphroditism ( Testicular Feminization ) Metabolic Disorders ( inborn Errors of Metabolism ) Muscular Dystrophy Testicular Feminization Type IIa Hyperlipoproteinemia ( Familial Hypercholesterolemia ) ... ...

Hypoglycemia

... get you to an emergency room if an attack occurs. Blood sugar : Hypoglycemia ( low blood sugar ) is the predominant finding in a number of inborn errors of metabolism . Severe low blood sugar ( hypoglycemia ) Doll-like features in children, including puffy cheeks, a thin chest and ...

Impacted tooth

... Glucose Tolerance (Pre- Diabetes ) Impaired Vision (Visual Impairment) Impetigo Impotence (Erectile Dysfunction) Im pulse -Control Disorders inborn Errors of Metabolism Incompetent Cervix ... Most oral health specialists will recommend an immediate removal of the wisdom teeth , as ...

Impetigo

... infertility , brief version * - treatment for male infertility ... Impetigo Impotence (Erectile Dysfunction) Im pulse -Control Disorders inborn Errors of Metabolism Incompetent Cervix Incomplete Abortion (Incomplete Miscarriage ) Incomplete Miscarriage Increased Intra cranial ...

Impotence

... suture ; paresthesia ; paresthetic; parethmoid; paretic; paretic impotence ; ... Impotence (Erectile Dysfunction) Im pulse -Control Disorders inborn Errors of Metabolism Incompetent Cervix Incomplete Abortion (Incomplete Miscarriage ) Incomplete Miscarriage Increased Intra cranial ...

Infant formulas

... Nutren 2. Aside from the products described above, numerous other infant formulas are available. Some of these are designed to treat specific inborn errors of metabolism , in which your baby is unable to utilize certain amino acids . Virtually all cow's milk and all standard infant ...

Lactose intolerance

... Food Guide Gets Personal Good Gut 'Bugs' Help Irritable Bowel Syndrome ... The most common food intolerance is lactose intolerance , an inborn inability to digest the sugar in milk . Preventive steps Non prescription antigas medications containing simethicone (Mylanta II, Maalox II, ...

Leukodystrophy

... or Krabbe leukodystrophy , is characterized by acute nervous system degeneration. Disease , lipid storage: A series of disorders due to inborn errors in lipid metabolism resulting in the abnormal accumulation of lipid s in the wrong places (Examples include Gaucher, Fabry and ...

Low blood sugar

... problem for people with congestive heart disease . Blood sugar : Hypoglycemia ( low blood sugar ) is the predominant finding in a number of inborn errors of metabolism . Very high or low blood sugar immediately after a stroke interferes with proper brain cell function, increasing the ...

Manic Depression

... the following symptoms: ... Manic Depression ( Bipolar Disorder ) Maple Sugar Urine Disease (MSUD) - Nutrition al Considerations ( inborn Errors of Metabolism ) Maple Syrup Urine Disease Marfan Syndrome Margarine vs. Butter ... MANIC DEPRESSION ( Bipolar Disorder ; Mania ) ...

Metabolic Diseases

... disease s and chromosomal abnormalities ... Inherited metabolic diseases also may promote cataract formation. In addition to diabetes , inborn deficiencies of enzyme s needed to break down the sugar found in milk ( lactose ) can lead to accumulation of another sugar called ...

Phenylketonuria

... ( Serum Phenylalanine Screening) Phenylbutazone Overdose Phenylketonuria Phenylketonuria ( PKU ) - Nutrition al Considerations ( inborn Errors of Metabolism ) Phenytoin - Serum ( Therapeutic Drug Levels) ... This is for people that have a rare genetic order called ...

Pku

... in the body, which can be toxic . phenylketonuria ( PKU ) -- can rarely cause seizures in infants other metabolic diseases , such as inborn error of metabolism use of cocaine , amphetamine s, alcohol or certain other recreational drugs withdrawal from alcohol ... The incidence of ...

Tooth

... Glucose Tolerance (Pre- Diabetes ) Impaired Vision (Visual Impairment) Impetigo Impotence (Erectile Dysfunction) Im pulse -Control Disorders inborn Errors of Metabolism Incompetent Cervix ... The central portion of the tooth , the pulp, and the narrow canal into the root(s) of the ...
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