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  • noun

Words related to galactosemia

a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent

References in periodicals archive ?
In addition to TMS, it is also desirable to add 3 more techniques for a complete screening program: 1) Gas chromatography and mass spectrometer for urine organic acid analysis to confirm diagnosis of organic acidemia and certain fatty acid oxidation disorders; 2) An amino acid High Performance Liquid Chromatography (HPLC) to confirm diagnosis of aminoacidopathies; and 3) AutoDELFIA system for the diagnosis of disease that cannot be identified by TMS namely congenital hypothyroidism, biotinidase deficiency, galactosemia, congenital adrenal hyperplasia, cystic fibrosis, etc.
Neonatal screening for galactosemia by quantitative analysis of hexose monophosphate using tandem mass spectrometry: a retrospective study.
Jaundice appearing after the 1st week: breast milk jaundice, septicemia, congenital atresia of the bile ducts, hepatitis, rubella, herpetic hepatitis, galactosemia, hypothyroidism, spherocytosis (congenital hemolytic anemia), other hemolytic anemias (G6PD deficiency, glutathione synthetase, reductase, peroxidase, pyruvate kinase deficiencies).
La galactosemia clasica ocurre raramente, quizas en solo 1 o 2 de cada 100.
Mandatory neonatal screening is already in place for diseases such as PKU, sickle cell anemia, congenital hypothyroidism, galactosemia, and congenital adrenal hypoplasia(*1) because early intervention for these diseases can have a profound effect on outcome.
Galactosemia is a rare hereditary disease leading not only to cirrhosis in infants, but, more seriously, to early, devastating illness if not diagnosed quickly.
37, 8 Ectopic production Breastfeeding Breast stimulation Hypothyroidism Medications Empty sella syndrome Pituitary adenoma Autoimmune Chemotherapy Galactosemia Genetic 17-hydroxylase deficiency syndrome Idiopathic Mumps Pelvic radiation Chronic liver disease Chronic renal insufficiency Diabetes Immunodeficiency Inflammatory bowel disease Thyroid disease Severe depression or psychosocial stressors Acromegaly Androgen-secreting tumor (ovarian or adrenal) Cushing's disease Exogenous androgens Polycystic ovary syndrome Thyroid disease Asherman's syndrome Cervical stenosis TABLE 4: Causes of secondary amenorrhea in study group.
3,5) Existen ademas diversos trastornos generalizados heredados que se relacionan con este sindrome, como la enfermedad de Wilson, galactosemia, tirosinemia, cistinosis, intolerancia a la fructosa y sindrome oculo-cerebral de Lowe.
The results today support the [American Academy of Pediatrics'] recent policy and what a lot of pediatricians are already doing: Saying that soy formula is best for vegetarian families who want to feed their kids in a vegetarian way or have a specific concern such as galactosemia or congenital lactase deficiency," Dr.
Estan indicadas en: alergia a la proteina de leche de vaca, diarrea con intolerancia secundaria a la lactosa y en galactosemia y deficiencia primaria de lactosa.
Monitoring neonatal hypoglycemia with the Accuchek advantage II glucose meter: the cautionary tale of galactosemia [Letter].
Direct analysis of enzyme activity is used in testing for galactosemia (galactose-1-phosphate uridyltransferase deficiency) and biotinidase deficiency.
Actualmente, los trastornos metabolicos tambien se identifican como posibles causas fundamentales del SMSL, y son reportadas algunas entidades como: alteraciones en la cadena respiratoria mitocondrial, aciduria dicarboxilica, aciduria etilmalonica, aciduria metilmalonica, aciduria propionica, aciduria isovalerica, glucogenosis tipo I, galactosemia, fructosemia, enfermedad de Wolman, homocisitnuria, trastornos del ciclo de la urea, acidosis lacticas (biotinidasa, piruvato deshidrogenasa) y trastornos de la [beta]-oxidacion mitocondrial de los acidos grasos, entre otras (5).
Patients were excluded from the study if they had any organic disease of the small or large intestines, had a known allergy to either of the study medications, or had previous gastrointestinal surgery, cardiac or renal failure, ileus, bowel obstruction, galactosemia, pregnancy, lactation, or diabetes.
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