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Galactosaemia is an extremely rare disorder caused by the accumulation in the
blood of one of the sugars (galactose) found in milk. Galactosaemia is one of the
few times breastfeeding is contraindicated. Babies with galactosaemia who ...
Three enzyme defects can cause galactosaemia, and exemplify the production of
a clinical syndrome due to the accumulation of a substrate of the missing enzyme
. In classic galactosaemia, the absence of the enzyme galactose 1-phosphate ...
William J. Marshall, William J. Marshall (Ph. D.), S. K. Bangert, 2008
3
Textbook Of Biochemistry
Galactosaemia Inborn errors due to deficiency of one of the enzymes of
galactose metabolism cause galactosaemia. The deficient enzyme may be
galactokinase, galactose 1-phosphate uridyl transferase, or rarely epimerase.
Deficiency of the ...
4
Inborn Metabolic Diseases: Diagnosis and Treatment
N Engl J Med 304:994-998 Waggoner DD, Buist NRM, Donnell GN (1990) Long-
term prognosis in galactosaemia: result of a survey of a 350 cases. J Inherit
Metab Dis 13:802-818 29. Gibson JB (1995) Gonadal function in galactosemics
and ...
John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, 2006
5
Rapid Paediatrics and Child Health
Galactosaemia: Neonates present with prolonged jaundice (initially
unconjugated then conjugated), vomiting, hypoglycaemia and 2° convulsions.
Later present with cataracts, hepatosplenomegaly, stunted growth, ascites and
learning ...
Helen A. Brough, Ram Nataraja, 2011
6
Clinical Paediatric Dietetics
It is now known that significant amounts of endogenous galactose are formed in
patients with galactosaemia with release rates being several-fold higher in
infants than in adults [90]. It is estimated that adults produce approximately 13 mg
/kg ...
Vanessa Shaw, Margaret Lawson, 2013
7
Oxford Handbook of Children's and Young People's Nursing
Galactosaemia is an autosomal recessive inherited metabolic disorder of
carbohydrate metabolism, affecting metabolism of galactose (from the milk sugar
lactose). There are three inborn errors of galactose metabolism (see figure
opposite).
Edward Alan Glasper, Gillian McEwing, Jim Richardson, 2007
8
Oxford Textbook of Medicine
Definitive diagnosis by enzymatic assay of galactokinase in erythrocytes or
cultured fibroblasts differentiates the disorder from classic galactosaemia and
hypergalactosaemia due to vas— cular disease in the liver. Treatment with a
strict ...
9
Endocrine Autoimmunity and Associated Conditions
Metabolic: galactosaemia Galactosaemia is a rare inherited autosomal recessive
disorder due to a deficiency in the enzyme galactose-1 -phosphate uridyl
transferase (GALT) [59]. These patients develop hepatocellular, ocular, renal,
and ...
10
Acquired Neurological Speech/Language Disorders In Childhood
The toxic manifestations of galactosaemia are thought to result from the
accumulation of galactose-1-phosphate.The major symptoms of the condition
when the infant is exposed to galactose include cataract formation,
hepatosplenomegaly ...
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Highbury girl nets two medals on top-level debut at Tennis …
The 14-year-old, who lives in Whistler Street and has a rare genetic disorder called galactosaemia, was elevated to the competition's first ... «Islington Gazette, 二月 15»
Milk Intake and Risk of Mortality and Fractures
Portnoi PA, MacDonald A. Determination of the lactose and galactose content of cheese for use in the galactosaemia diet. J Hum Nutr Diet 2009;22:400-8. «Medscape, 十一月 14»
Hereditary metabolic disorders may be under-diagnosed
Among the most frequent HMDs in Ireland are Phenylketonuria (PKU), Galactosaemia (the latter two detected by the national newborn ... «Irish Medical Times, 二月 14»
Win £100 Sainsbury's vouchers with your real Christmas food …
Please note: Just Milk Lactose Free* is not suitable for cows' milk allergy sufferers or those with Galactosaemia. *Less than 0.1% lactose. «goodtoknow, 十二月 13»
The woes of premature menopause
Women with a family history of premature menopause and enzyme defects (galactosaemia) are more likely to have an early onset of menopause. Chromosome ... «Wonder Woman, 七月 13»
AKUH can now detect genetic disorders in newborns
For instance, a person suffering from galactosaemia has to avoid milk or any milk products all his life while a person with fructose intolerance ... «The Express Tribune, 三月 13»
Cystic Fibrosis: 44 babies diagnosed since routine heel prick tests …
The test screens for phenylketonuria, homocystinuria, maple syrup urine disease, classical galactosaemia, congenital hypothyroidism and ... «Irish Independent, 二月 13»
Calls for 'priceless resource' of heel prick test results to be saved
These are Phenylketonuria (PKU), Homocystinuria, Maple Syrup Urine Disease, Classical Galactosaemia, Congenital Hypothyroidism and, ... «Irish Times, 二月 13»
Doctors slam HSE move to scrap gene data
The diseases screened for are: phenylketonuria, cystic fibrosis, congenital hypothyroidism, classical galactosaemia, homocystinuria, and maple ... «Irish Health, 一月 13»
Non-invasive prenatal measurement of the fetal genome
... and immunological disorders such as phenylketonuria, galactosaemia, maple syrup urine disease, and severe combined immunodeficiency. «Nature.com, 七月 12»
