galactosemia


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ga·lac·to·se·mi·a

 (gə-lăk′tə-sē′mē-ə)
n.
An inherited metabolic disorder characterized by deficiency of an enzyme necessary for the metabolism of galactose, a sugar found in milk, milk products, many legumes, and organ meats. The disorder results in elevated levels of galactose in the blood and can lead to intellectual disability and eye and liver abnormalities.

ga·lac′to·se′mic adj.

ga•lac•to•se•mi•a

(gəˌlæk təˈsi mi ə)

n.
an inherited disorder characterized by the inability to metabolize galactose and necessitating a galactose-free diet.
[1930–35]
ga•lac`to•se′mic, adj.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.galactosemia - a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
Translations

ga·lac·to·se·mi·a

[MIM*230400]
n. galactosemia, ausencia congénita de la enzima necesaria para la conversión de galactosa a glucosa o sus derivados.

galactosemia

n galactosemia
References in periodicals archive ?
'We initiated our Phase 1/2 trial of AT-007 in Galactosemia in June and reported favorable Single Ascending Dose data from healthy volunteers last week.
These cataracts also may be due to certain conditions, such as myotonic dystrophy, galactosemia, neurofibromatosis type 2 or rubella.
Experts noted that even though a Karachi-based private hospital had the technology to test for the CHT and four other rare diseases (cystic fibrosis, congenital adrenal hyperplasia, biotinidase deficiency and galactosemia), it was rare for babies to be screened at birth in Pakistan even though such screening had been common in the developed world for the past 50 years.
Experts noted that even though a Karachi-based private hospital has the technology to test for CHT and four other rare diseases (cystic fibrosis, congenital adrenal hyperplasia, biotinidase deficiency and galactosemia); it is rare for babies to be screened at birth in Pakistan even though such screening has been common in the developed world for the last 50 years.
She had a normal TORCH screen, hepatitis B and C serologies, alpha-1-anti-trypsin level, galactosemia screen, metabolic and mitochondrial studies, urine bile acids and negative genetic testing for Niemann-Pick type C, Alagille syndrome and progressive familial intra-hepatic cholestasis.
Another expanded study started in 2000 in Hyderabad for amino acid disorders, CH, congenital adrenal hyperplasia (CAH), G6PD deficiency, biotinidase deficiency, galactosemia, and cystic fibrosis, revealed high prevalence of CH followed by CAH and G6PD deficiency.
Interestingly, a recent study result tells the reality about the galactosemia patients should be monitored for anomalies of renal vessels (3).
Prolonged labor, chorioamnionitis, maternal intrapartum fever, prematurity, prolonged rupture of membranes, galactosemia and instrument assisted delivery are important risk factors4.
Babies who are suffering from a case of classic galactosemia (a medical condition where the baby is unable to digest breast milk because their body is unable to break down lactose and galactose) cannot be breastfed.
It is reported that galactosemia, tyrosinemia, bile acid metabolism disorders, and alpha-1 antitrypsin deficiency may cause cholestasis, and there is no report of cholestasis associated with vitamin B12 deficiency.6 In our study, we found only two cases (0.9 percent) with cholestasis: one case with and the other without vitamin B12 deficiency.
Initially her project, titled as Philippine NBS Project, was testing only six metabolic conditions, such as hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria, homocystinuria and glucose-6-phosphate dehydorgenase deficiency.
A kit for the detection of galactose for neonatal screening for galactosemia, a kit for quantifying galactose-1-phosphaturidyl transferase, a kit for the determination of 17-hydroxyprogesterone, a set of reagents for neonatal screening for phenylketonuria by the phosphorescent method, a kit for the determination of thyroid stimulating hormone

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