Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic...

from classic galactosemia in that patients with Duarte galactosemia have partial GALT deficiency whereas patients with classic galactosemia have complete...

Galactose-1-phosphate uridylyltransferase deficiency (classic galactosemia) is the most common type of galactosemia, an inborn error of galactose metabolism, caused...

classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not...

There are two forms of Galactosemia: classic and Duarte. Duarte galactosemia is generally less severe than classic galactosemia and is caused by a deficiency...

progress in understanding, diagnosing and treating the congenital disease galactosemia. Leloir is buried in La Recoleta Cemetery, Buenos Aires. Leloir's parents...

first go through one of these processes in order to utilize the sugar. Galactosemia is an inability to properly break down galactose due to a genetically...

galactosemic cataract is cataract which is associated with the consequences of galactosemia. The presence of presenile cataract, noticeable in galactosemic infants...

damage the ovaries, leading to POI. Women who have inherited classic galactosemia (galactose intolerance) may develop primary ovarian insufficiency. The...

disorder is inherited as an autosomal recessive trait. Unlike classic galactosemia, which is caused by deficiency of galactose-1-phosphate uridyltransferase...

infant if breast milk from their mother is consumed. Examples include galactosemia, untreated HIV, untreated active tuberculosis, Human T-lymphotropic virus...

lipase deficiency 1 in 40,000 Glycogen storage diseases 1 in 50,000 Galactosemia 1 in 57,000 X-linked Duchenne muscular dystrophy 1 in 5,000 Hemophilia...

carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis...

trait. Recessive genetic disorders include albinism, cystic fibrosis, galactosemia, phenylketonuria (PKU), and Tay–Sachs disease. Other disorders are also...

(AT-007) is an aldose reductase inhibitor and experimental drug to treat galactosemia and sorbitol dehydrogenase deficiency. After a report circulating on...

Wallace SE, Bean LJ, Mirzaa G, et al. (1993). "Classic Galactosemia and Clinical Variant Galactosemia". In Adam MP, Ardinger HH, Pagon RA, Wallace SE (eds...

syndrome Cerebrotendineous xanthomatosis Diabetes mellitus Fabry's disease Galactosemia / galactosemic cataract Homocystinuria Hyperparathyroidism Hypoparathyroidism...

acids (e.g. PKU, Tyrosinemia), organic acids, primary lactic acidosis, galactosemia, or a urea cycle disease 24 per 100,000 births 1 in 4,200 Lysosomal storage...

condition of copper metabolism), Lowe syndrome, tyrosinemia (type I), galactosemia, glycogen storage diseases, and hereditary fructose intolerance. Two...

adrenogenital syndrome, also known as congenital adrenal hyperplasia Galactosemia The test uses the growth of a strain of bacteria on a specially-prepared...

stress reaction Hypopituitarism Severe liver disease Acromegaly Shock Galactosemia Several glycogen storage diseases Obesity Convulsions Ectopic hormone...

deficiency, 1.84% for congenital hypo-thyroidism, 0.56% for classic galactosemia, and 2.9% for phenylketonuria). According to this estimate, 200 unaffected...

coeliac disease or lactose intolerance. It is not suitable for people with galactosemia, or as a partial source of nutrition for children under the age of 3...

conditions. These include autism, some forms of epilepsy, fragile X syndrome, galactosemia and chromosome translocations involving duplications or deletions. Developmental...

to chronic right-sided heart failure, which leads to liver congestion Galactosemia Glycogen storage disease type IV Cystic fibrosis Hepatotoxic drugs or...

Müllerian agenesis, also known as Müllerian aplasia, vaginal agenesis, or Mayer–Rokitansky–Küster–Hauser syndrome (MRKH syndrome), is a congenital malformation...

improper metabolism of galactose-1-phosphate is a characteristic of galactosemia. The Leloir pathway is responsible for such metabolism of galactose and...

test used to identify enzyme defects. It can be used in screening for: galactosemia glucose-6-phosphate dehydrogenase deficiency Markić J, Krzelj V, Markotić...

slightly sweet taste. In people with galactokinase deficiency, a form of galactosemia, excess dulcitol forms in the lens of the eye leading to cataracts. Galactitol...

softener to causing diarrhea. Lactulose is contraindicated in case of galactosemia, as most preparations contain the monosaccharide galactose due to its...