Coexistence of Duarte 1 and Duarte 2 variants of galactosemia with extrahepatic biliary atresia
نویسندگان
چکیده
منابع مشابه
Coexistence of Duarte 1 and Duarte 2 variants of galactosemia with extrahepatic biliary atresia
Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia caused by severe reduction or absence of the galactose1-phosphate uridyl transferase (GALT) enzyme. Coexistence of extrahepatic biliary atresia (EHBA) with Duarte 1 and 2 variants of ga...
متن کاملDuarte galactosemia: how sweet is it?
The pathologic consequences of various inborn errors of metabolism in the conversion of dietary and endogenously produced galactose through the Leloir pathway have recently been reviewed (1, 2 ). In this issue of the Journal, Ficicioglu and colleagues (3 ) report that children (ages 1– 6 years) who have Duarte galactosemia (DG), a variant form of galactosemia, and are on a standard diet have ty...
متن کاملHemoglobin Duarte : ( a 2 fl
A patient with a normal blood hemoglobin was found to be heterozygous for a new level, but with evidence of brisk hemolfl-chain mutation and fl-thalassemia. All ysis, was found to have an unstable of the hemoglobin in his red cells was of hemoglobin with a left-shifted oxygen the abnormal type, designated hemodissociation curve. Two sisters of the paglobin Duarte, and was shown to contain tient...
متن کاملCongenital Extrahepatic Biliary Atresia
Case 1. The elder of two sibs, this boy was born on May 21, 1965 to unrelated healthy parents aged 29 (mother) and 30 years (father). Birthweight was 2820 g.; delivery was by forceps. His mother had 'influenza' between the fifth and sixth months of the pregnancy which had been otherwise normal. There was no previous foetal loss. Four generations of the family, comprising, in addition to the par...
متن کاملMonitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.
BACKGROUND Duarte galactosemia (DG) is frequently detected in newborn-screening programs. DG patients do not manifest the symptoms of classic galactosemia, but whether they require dietary galactose restriction is controversial. We sought to assess the relationships of selected galactose metabolites (plasma galactose, plasma galactitol, erythrocyte (RBC) galactitol, RBC galactonate, and urine g...
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ژورنال
عنوان ژورنال: Health
سال: 2010
ISSN: 1949-4998,1949-5005
DOI: 10.4236/health.2010.24041