galactosemia


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galactosemia

(gəlăk'təsē`mēə), inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in the body. The disorder is manifested soon after birth by feeding problems and diarrhea. Galactose is accumulated principally in the liver of the newborn infant, where it may induce cirrhosis, and in the lens of the eye, where cataracts may develop. Low glucose levels cause sufficient hypoglycemia to affect the central nervous system with resulting mental retardation. These ill effects can be prevented by removing milk and all other foods containing galactose and lactose from the diet.

galactosemia

[gə‚lak·tō′sē·mē·ə]
(medicine)
A congenital metabolic disorder caused by an enzyme deficiency and marked by high blood levels of galactose.
References in periodicals archive ?
AutoDELFIA tests: Congenital Hypothyroidism, Galactosemia, Biotinidase deficiency, Congenital Adrenal Hyperplasia.
Marcador metabolico ENFERMEDAD TIPO DE ALTERACION por MS/MS Galactosemia Deficiencia de Hexosa mono-fosfatos galactosa-1-fosfato totales uridil transferasa Enfemedades por Atresia biliar Acidos biliares colestasis extrahepatica conjugados hepatobiliar Deficiencia de acil-CoA oxidasa Enfermedades de Deficiencia de C20:0 eicosanoilcarnitina, los peroxisomas proteina bifuncional C22:0 docosanoilcarnitina, C24:0 tetracosanoilcarnitina Deficiencia de C26:0 Hexacosanoilcarnitina tiolasa peroxisomal Sales biliares Adrenoleucodistrofia ligada al X Sindrome de Zellweger Enfermedades 17 purinas y del metabolismo pirimidinas en orina purinas y las pirimidinas ENFERMEDAD autor Galactosemia Jensen y col (38) Enfemedades por Mills y col.
Because of the potentially disastrous effects of late diagnosis man y states have mandatory neonatal screening programs for galactosemia.
Transient galactosemia detected by neonatal mass screening.
Katz, whose commentary is slated to appear in the September issue of Pediatrics, noted that the March of Dimes already advocates a specific panel of tests for all infants (phenylketonuria [PKU], congenital hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria, and sickle cell anemia), and suggested that the task force should have done likewise.
In 1998, Georgia newborns were screened for eight disorders: phenylketonuria, galactosemia, tyrosinemia, homocystinuria, hypothyroidism, maple syrup urine disease, congenital adrenal hyperplasia, and sickle cell disease [3].
The Newborn Screening Laboratory tests all Indiana newborns for six disorders: five metabolic--hypothyroidism, Maple Syrup Urine Disease, phenylketonuria (PKU), galactosemia, homocystinuria--and sickle cell disease, a hematologic disorder.
The second discusses the role of genetically determined metabolic malfunctions, such as galactosemia, hyperlipidemia, porphyria, hemochromatosis and related conditions, while part three looks at acquired and chronic diseases caused or exacerbated by endogenous toxins, such as hepatic injury, asthma, rheumatism, colorectal cancer, reperfusion diseases, neurodegneration and aging.
In 2007, NBS for inborn errors of metabolism was expanded from 1 disorder (PKU) to 14 disorders, including, among others, MCAD, various disorders of long-chain fatty acid oxidation, galactosemia, biotinidase deficiency, and maple sugar urine disease.
Save Babies Though Screening Foundation (SBTS) was founded in 1998 by a family, following the death of their infant son from galactosemia.
Monitoring neonatal hypoglycaemia with the Accucheck Advantage II glucose meter: The cautionary tale of galactosemia (Letter).

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