galactose

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cho training day.ppt [compatibility mode] galactose, fructose etc mary anne preece consultant biochemist birmingham children’s hospital carbohydrate training day galactose ¨ lactose (glucose-galactose) ¨ primary cho source in milk ¨ provides 40% of energy in neonates ¨ symptoms appear early in life ¨ metabolism ¤ formation of glucose-1-phosphate ie acts as energy source especially in infants ¤ formation of galactosides via udpgal ¤ minor pathways n formation of galactitol n formation of galacturonic acid inborn errors of galactose metabolism ¨ galactose-1-phosphate uridyl transferase deficiency (classical galactosaemia) ¨ galactokinase deficiency ¨ epimerase deficiency ¨ all autosomal recessive galactose metabolism galactose galactose-1-p udpglucose glucose-1-p udpgalactose glycolipids galactose-1-phosphate uridyl transferase galactose galactose-1-p á udpglucose glucose-1-p udpgalactose galactitol glycolipids classical galactosaemia ¨ normal birth weight ¨ failure to regain birth weight ¨ symptoms in second half of 1st week ¤ refusal to feed ¤ vomiting ¤ jaundice ¤ lethargy ¤ hepatomegaly ¤ oedema ¤ …

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l transferase (erythrocyte/fibroblast) ¨ erythrocyte galactose-1-phosphate ¨ mutation analysis ¨ urine galactitol urine sugars ¨ clinistix ¤ specific for glucose ¨ benedict’s ¤ reacts with reducing substances including reducing sugars ¤ glucose, galactose, fructose, lactose – positive ¤ sucrose - negative clinistix & benedict’s clinistix benedict’s sugars present positive negative glucose only negative positive non glucose reducing substance(s) positive positive glucose +/- other non glucose reducing substance(s) urine sugars - pitfalls ¨ rely on dietary intake ¨ clinistix and clinitest are confused ¨ can have positive clinistix in galactosaemia ¨ galactosuria may be secondary to liver failure sugar chromatography beutler test udpgluc* gal-1-p* nadp* beutler test udpgluc* gal-1-p* nadp* galt rbc enz including g6pd beutler test udpgluc* gal-1-p* udpgal gluc-1-p nadp* ribose-5-p nadph galt rbc enz including g6pd beutler test in galactosaemia udpgluc* gal-1-p* udpgal gluc-1-p nadp* ribose-5-p nadph rbc enz including g6pd x beutler test galactosaemia screen ¨ beutler …

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ve outcome ¨ but ¤ early presentation ¤ variants detected classical galactosaemia - treatment ¨ restriction of galactose and lactose ¨ neonate ¤ soya milk ¨ older child ¤ avoid hidden sources ¤ milk powder, milk solids, hydrolysed whey ¤ drugs in tablet form, toothpaste, baking additives, fillers in sausages ¤ some cheeses are allowed (emmenthal, gruyère, mature cheddar) ¨ vegetables ¤ galactolipids, polysaccharides, disaccharides, oligosaccharides ¤ need (bacterial) α-galactosidase to be broken down classical galactosaemia - long term outcome ¨ poor intellectual function ¤ falling iq with age ¨ delayed speech development ¨ introverted personalities ¨ mild growth retardation ¨ ovarian dysfunction ¤ loss of bone mineral content ¤ hrt may be required fsh in female galactosaemics 0 10 20 30 40 50 60 70 80 0.0 5.0 10.0 15.0 20.0 25.0 30.0 35.0 40.0 age (years) fs h (u /l ) bone density in galactosaemia ¨ calcium intake …

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d ¨ is treatment required for life? ¨ how should we treat variant cases? classical galactosaemia - summary ¨ may still be under diagnosed ¨ remember ¨ urine sugars may be unhelpful ¨ if galactosaemia suspected always do galactosaemia screen on blood ¨ if baby has had a transfusion please phone to discuss investigation galactokinase deficiency galactose galactose-1-p udpglucose glucose-1-p udpgalactose galactitol glycolipids galactokinase deficiency ¨ bilateral nuclear cataracts in early infancy ¨ galactose and galactitol in urine ¨ enzyme defect in rbc or skin ¨ incidence approx 1 in 40000 (switzerland) ¨ can use milk/galactose load for diagnosis epimerase deficiency galactose galactose-1-p á udpglucose glucose-1-p udpgalactose galactitol glycolipids epimerase ¨ severe form ¤ present like classical galactosaemia ¤ treatment difficult n patients are galactose dependant ¨ mild form ¤ patients remain healthy ¤ no treatment required fructose ¨ fructose - fruits, vegetables, honey ¨ sorbitol - fruits and vegetables …

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symptoms dependent on fructose intake ¤ nb sucrose, sorbitol ¨ fructose fructose-1-p ¤ high activity of fructokinase ¤ depletion of pi and atp ¨ hypoglycaemia ¤ inhibition of glycogenolysis ¤ inhibition of gluconeogenesis hereditary fructose intolerance (hfi) ¨ vomiting is a constant finding ¨ acute presentation ¤ sweaty, trembling ¤ nausea, vomiting ¤ lethargy, coma ¤ severe liver and kidney failure ¤ death hereditary fructose intolerance (hfi) ¨ vomiting is a constant finding ¨ chronic presentation – undulating course ¤ poor feeding, vomiting ¤ failure to thrive ¤ hepatomegaly ¤ less commonly n drowsiness, crying, vomiting, haemorrhages, abdominal distension, irritability, diarrhoea ¤ absence of dental caries hereditary fructose intolerance ¨ laboratory findings ¤ abnormal liver function ¤ post-prandial hypoglycaemia ¤ hypophosphataemia ¤ renal tubular dysfunction ¨ diagnosis ¤ urine sugar chromatography ¤ fructose load (measure glucose, po4, mg, urate, hco3) **dangerous** ¤ dna mutation analysis ¤ aldolase b measurement (liver) …

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cho training day.ppt [compatibility mode] galactose, fructose etc mary anne preece consultant biochemist birmingham children’s hospital carbohydrate training day galactose ¨ lactose (glucose-galactose) ¨ primary cho source in milk ¨ provides 40% of energy in neonates ¨ symptoms appear early in life ¨ metabolism ¤ formation of glucose-1-phosphate ie acts as energy source especially in infants ¤ formation of galactosides via udpgal ¤ minor pathways n formation of galactitol n formation of galacturonic acid inborn errors of galactose metabolism ¨ galactose-1-phosphate uridyl transferase deficiency (classical galactosaemia) ¨ galactokinase deficiency ¨ epimerase deficiency ¨ all autosomal recessive galactose metabolism galactose galactose-1-p udpglucose glucose-1-p udpgalactose glycolipids gal...

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