Case presentation from Norway • Rina Lilje • Metabolic Dietetitian, Oslo University Hospital, Rikshospitalet
Background • 4,5 year old girl, both parents from Ghana, not related • Normal psycomotoric developement • Lots of energy when healthy • Always been a picky eater, often vomiting wihtout any reason; father call her «The anorectic of their family» • Weight: 6 perc/age (-1,64 Z-score)/Height: 3 perc (-1,95 Z-score)
Diet history • The parents have always worked hard to give her a good breakfast; Oatmeal porridge or rice porridge • Regular, but small meals during the day • Never wanted to eat meat, fish or milk products, for dinner she eats different types of potato or rice dishes • Likes salt, salty food and butter • Love fruit juices, this is a bait for all kind of activity
Medical history • During last summer, a couple of episodes of weak- and drowsiness, eating less than normal. • No sign of infection • The last episode in the end of December; • Weak with less energy for some days. • The parents gave her a protein rich energy drink from the food store (6 g protein/100ml) for 2-3 days
• She is getting more and more drowsy, eating even less, confused, atactic, restless • Admitted to hospital • Normal labs, no sign of infection • EEG: Unspesific abnormality; encephalopaty, no epileptic activity • MR caput, spinal punction and UL abdomen normal
Treatment • IV fluid, NaCl and Glucose • Aciclovir • Immuno globulines in case of autoimmun encephalopaty • Improving gradually • Metabolic screeing
Two days later • Ammonia 235 µmol/L • Suspecting Urea Cycle Disorder • TPN with redused protein, 60-80 kcal/day • Phenylbutyrat (Ravicti) and Arginine/Citrulline • Next day: Ammonia 30 • Back home four days later
Metabolic investigation • ↓ citrullin + ↑ orot syre + ↑ammoniakk = can be O rnitin T rans C arbamylase defekt (OTC) • New born Screening normal • New mutation
Diagnostikk-1: Ornitin Transcarbamylase defekt P-aminosyrer og urin ved OTC defekt: Acetyl-CoA +Glutamate NAGS Citrullin måles lav Orotsyre i urin ved OTC defekt Arginin måles lav
Diet Plan • Weight: 14,9 kg • Protein: 11 g /day; 0,7 g/kg • Essential Amino Acid Mix (Nutricia): 6 g/day (2 g x 3); 4,7 g protein; 0,3 g protein/kg • Focus on energy intake; 1100-1200 kcal/day (75-80 kcal/kg) • Emergency Regimen (SOS); Sjelden.no/Katalog/SOS • Uncooked Corn Starch at night: Aim for 25 g; 1,7 g/kg, increase gradually • Vitamin and mineral supplement + cod liver oil
Visit after three months • Plan for the visit: • Update and labs • Information • Meet another OTC family • «Senter for sjeldne Diagnoser» (Center for Rare Disorders) – The Kindergarten needs information • Information regarding Gastrostomy
Update • Weight: 15,8 kg, a nice weight gain • Still a slow eater • Natural protein increaced to 13 g/day; 0,8 g/kg • UCCS is difficult to give, therefore given three times during daytime; we recommend a late evening dose • Give glucose polymer during daytime instead of UCCS • Calsium supplement
• Ammonia 48 µmol/L, Glutamin 781 µmol/L (379-805), Arginine 46 µmol/L (aim for 80-120), low Carnitine, low iron status • Supplements and medicine: • Ravicti 1,1 g/ml: 1 ml x 3 => 7,5 g/m² • Citrulline capsules: 1 g x 3 (190 mg/kg) • Niferex drops 30 mg/ml: 0,5 ml x 1 • Biocarn mixture, 303 mg/ml: 1 ml x 3 for 3-4 months • Calsium: 250 mg x 1 • Cod liver oil: 5 ml x 1 • Nycoplus Multi Barn, 1 tablett x 1
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