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...

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

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...

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...

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

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

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

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

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

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

in galactolysis result in metabolic disorders. There are 3 types of galactosemia or galactose deficiencies: Holden, Hazel M.; Rayment, Ivan; Thoden, James...

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...

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

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

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

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...

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...

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

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

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

Budd–Chiari syndrome and other causes of hepatomegaly and ascites, such as galactosemia or Reye's syndrome. Evaluation for a JAK2 V617F mutation is recommended...

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

Ectrodactyly Ehlers–Danlos syndrome: 53  Fabry disease[citation needed] Galactosemia: 53  Gaucher's disease[citation needed] Some forms of Haemophilia: 53 ...

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...

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

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

committed step of galactose catabolism, forming galactose 1-phosphate. Galactosemia, a rare metabolic disorder characterized by decreased ability to metabolize...

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...