Case presentation from Norway Rina Lilje Metabolic - - PowerPoint PPT Presentation

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 Ornitin Trans Carbamylase defekt (OTC)

• New born Screening normal
• New mutation

Diagnostikk-1: Ornitin Transcarbamylase defekt P-aminosyrer og urin ved OTC defekt:

Acetyl-CoA +Glutamate NAGS

Orotsyre i urin ved OTC defekt Citrullin måles lav 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