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Galactosemia
Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetics, genetic Metabolism, metabolic Disease, disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Friedrich Goppert (1870–1927), a German physician, first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956. Galactosemia was the second disorder found to be detectable through newborn screening methods by Robert Guthrie. Its incidence is about 1 per 60,000 births for people of European ancestry. In other populations the incidence rate differs. Galactosemia is about one hundred times more common (1:480 births) in the Irish Traveller population. Symptoms and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactosemic Cataract
A galactosemic cataract is cataract which is associated with the consequences of galactosemia. Types The presence of presenile cataract, noticeable in galactosemic infants as young as a few days old, is highly associated with two distinct types of galactosemia: GALT deficiency and to a greater extent, GALK deficiency. An impairment or deficiency in the enzyme, galactose-1-phosphate uridyltransferase (GALT), results in classic galactosemia, or Type I galactosemia. Classic galactosemia is a rare (1 in 47,000 live births), autosomal recessive disease that presents with symptoms soon after birth when a baby begins lactose ingestion. Symptoms include life-threatening illnesses such as jaundice, hepatosplenomegaly (enlarged spleen and liver), hypoglycemia, renal tubular dysfunction, muscle hypotonia (decreased tone and muscle strength), sepsis (presence of harmful bacteria and their toxins in tissues), and cataract among others. The prevalence of cataract among classic galactosemics is m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Classic Galactosemia
Galactose-1-phosphate uridylyltransferase deficiency (classic galactosemia) is the most common type of galactosemia, an inborn error of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridylyltransferase. It is an autosomal recessive metabolic disorder that can cause liver disease and death if untreated. Treatment of galactosemia is most successful if initiated early and includes dietary restriction of lactose intake. Because early intervention is key, galactosemia is included in newborn screening programs in many areas. On initial screening, which often involves measuring the concentration of galactose in blood, classic galactosemia may be indistinguishable from other inborn errors of galactose metabolism, including galactokinase deficiency and galactose epimerase deficiency. Further analysis of metabolites and enzyme activities are needed to identify the specific metabolic error. Symptoms and signs In undiagnosed and untreated children, the a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactose 1-phosphate
D-Galactose-1-phosphate is an intermediate in the intraconversion of glucose and uridine diphosphate galactose. It is formed from galactose by galactokinase.The improper metabolism of galactose-1-phosphate is a characteristic of galactosemia. The Leloir pathway is responsible for such metabolism of galactose and its intermediate, galactose-1-phosphate. Deficiency of enzymes found in this pathway can result in galactosemia; therefore, diagnosis of this genetic disorder occasionally involves measuring the concentration of these enzymes. One of such enzymes is galactose-1-phosphate uridylyltransferase (GALT). The enzyme catalyzes the transfer of a UDP-activator group from UDP-glucose to galactose-1-phosphate. Although the cause of enzyme deficiency in the Leloir pathway is still disputed amongst researchers, some studies suggest that protein misfolding of GALT, which may lead to an unfavorable conformational change that impacts its thermal stability and substrate-binding affinity, ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Newborn Screening
Newborn screening (NBS) is a public health program of screening (medicine), screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions early enough to confirm the diagnosis and provide intervention that will alter the clinical course of the disease and prevent or ameliorate the clinical manifestations. NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie (microbiologist), Robert Guthrie developed a simple method using a bacterial inhibition assay that could detect high levels of phenylalanine in blood shortly after a baby was born. Guth ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Premature Ovarian Insufficiency
Primary ovarian insufficiency (POI), also called premature ovarian insufficiency and premature ovarian failure, is the partial or total loss of reproductive and hormonal function of the ovaries before age 40 because of follicular (egg producing area) dysfunction or early loss of eggs. POI can be seen as part of a continuum of changes leading to menopause that differ from age-appropriate menopause in the age of onset, degree of symptoms, and sporadic return to normal ovarian function. POI affects approximately 1 in 10,000 women under age 20, 1 in 1,000 women under age 30, and 1 in 100 of those under age 40. A medical triad for the diagnosis is amenorrhea, hypergonadotropism, and hypoestrogenism. Physical and emotional symptoms are similar to those seen during menopause and can include hot flashes, night sweats, dry skin, vaginal dryness, irregular or absent menstruation, anxiety, depression, mental fog, irritability, nervousness, decreased libido, and increased autoimmune di ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Herman Kalckar
Herman Moritz Kalckar (26 March 1908 – 17 May 1991) was a Danish biochemist who pioneered the study of cellular respiration. Kalckar made a number of significant contributions to the development of 20th century biochemistry including: * a founder of bioenergetics; * enzymology, including novel assay techniques; * galactose metabolism in both microorganisms and animal tissues; * suggestion that strontium-90 levels in children’s deciduous teeth correlated with nuclear testing. Childhood and early life Kalckar described his family life as “a middle class, Danish family—Danish for several generations.” His family life was not financially wealthy but was intellectually rich. His father, Ludvig Kalckar, was a businessman with an avid interest in theatre, especially the work of Henrik Ibsen. His mother, Bertha (née Melchior) Rosalie introduced Kalckar to a variety of French and German writers, including Gustave Flaubert, Marcel Proust, Johann von Goethe, and Heinrich Heine. Ka ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Irish Traveller
Irish Travellers (, meaning ''the walking people''), also known as Mincéirs (Shelta: ''Mincéirí'') or Pavees, are a traditionally List of nomadic peoples#Peripatetic, peripatetic Indigenous peoples, indigenous Ethnic group, ethno-cultural group originating in Ireland.''Questioning Gypsy identity: ethnic narratives in Britain and America'' by Brian Belton They are predominantly English-speaking, though many also speak Shelta, a language of mixed English language, English and Irish language, Irish origin. The majority of Irish Travellers are Catholic Church, Roman Catholic, the Religion in the Republic of Ireland, predominant religion in the Republic of Ireland. They are one of several groups identified as "Itinerant groups in Europe, Travellers" in the UK and Ireland. Irish Travellers have distinctive artistic traditions, some of which have influenced the broader cultural tapestry of Ireland. Irish Traveller music, known for its lively and virtuosic melodies, is a significan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cirrhosis
Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, chronic liver failure or chronic hepatic failure and end-stage liver disease, is a chronic condition of the liver in which the normal functioning tissue, or parenchyma, is replaced with scar tissue (fibrosis) and regenerative nodule (medicine), nodules as a result of chronic liver disease. Damage to the liver leads to repair of liver tissue and subsequent formation of scar tissue. Over time, scar tissue and nodules of regenerating hepatocytes can replace the parenchyma, causing increased resistance to blood flow in the liver's capillaries—the hepatic sinusoids—and consequently portal hypertension, as well as impairment in other aspects of liver function. The disease typically develops slowly over months or years. Stages include compensated cirrhosis and decompensated cirrhosis. Early symptoms may include Fatigue (medicine), tiredness, Asthenia, weakness, Anorexia (symptom), loss of appetite, weight loss, unexpla ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hepatomegaly
Hepatomegaly is enlargement of the liver. It is a non-specific sign (medicine), medical sign, having many causes, which can broadly be broken down into infection, hepatic tumours, and metabolic disorder. Often, hepatomegaly presents as an abdominal mass. Depending on the cause, it may sometimes present along with jaundice. Signs and symptoms The patient may experience many symptoms, including weight loss, poor appetite, and lethargy; jaundice and bruising may also be present. Causes Among the causes of hepatomegaly are the following: Infective Mechanism The mechanism of hepatomegaly consists of Blood vessel, vascular swelling, inflammation (infectious in origin), and deposition of (1) non-hepatic cells or (2) increased cell contents (such as that due to iron in hemochromatosis or hemosiderosis and fat in fatty liver disease). Diagnosis Suspicion of hepatomegaly indicates a thorough medical history and Abdominal examination, physical examination, wherein the latter typicall ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver
The liver is a major metabolic organ (anatomy), organ exclusively found in vertebrates, which performs many essential biological Function (biology), functions such as detoxification of the organism, and the Protein biosynthesis, synthesis of various proteins and various other Biochemistry, biochemicals necessary for digestion and growth. In humans, it is located in the quadrants and regions of abdomen, right upper quadrant of the abdomen, below the thoracic diaphragm, diaphragm and mostly shielded by the lower right rib cage. Its other metabolic roles include carbohydrate metabolism, the production of a number of hormones, conversion and storage of nutrients such as glucose and glycogen, and the decomposition of red blood cells. Anatomical and medical terminology often use the prefix List of medical roots, suffixes and prefixes#H, ''hepat-'' from ἡπατο-, from the Greek language, Greek word for liver, such as hepatology, and hepatitis The liver is also an accessory digestive ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Galactose
Galactose (, ''wikt:galacto-, galacto-'' + ''wikt:-ose#Suffix 2, -ose'', ), sometimes abbreviated Gal, is a monosaccharide sugar that is about as sweetness, sweet as glucose, and about 65% as sweet as sucrose. It is an aldohexose and a C-4 epimer of glucose. A galactose molecule linked with a glucose molecule forms a lactose molecule. Galactan is a polymeric form of galactose found in hemicellulose, and forming the core of the galactans, a class of natural polymeric carbohydrates. D-Galactose is also known as brain sugar since it is a component of glycoproteins (oligosaccharide-protein compounds) found in Nerve tissue, nerve tissue. Etymology The word ''galactose'' was coined by Charles Weissman in the mid-19th century and is derived from Greek language, Greek , , and the generic chemical suffix for sugars ''-ose''. The etymology is comparable to that of the word ''lactose'' in that both contain roots meaning "milk sugar". Lactose is a disaccharide of galactose plus glucose. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dairy
A dairy is a place where milk is stored and where butter, cheese, and other dairy products are made, or a place where those products are sold. It may be a room, a building, or a larger establishment. In the United States, the word may also describe a dairy farm or the part of a mixed farm dedicated to milk for human consumption, whether from cows, buffaloes, goats, yaks, sheep, horses or camels. The attributive ''dairy'' describes milk-based products, derivatives, and processes, and the animals and workers involved in their production, for example dairyman, dairymaid, dairy cattle or dairy goat. A dairy farm produces milk and a dairy factory processes it into a variety of dairy products. These establishments constitute the global dairy industry, part of the food industry. The word ''dairy'' comes from an Old English word for ''female servant'', as milking was historically done by dairymaids. Terminology Terminology differs between countries. In the United States, for ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
