Emergency treatment
Caveat: The general recommendation for emergency measures as mentioned in the paragraph on emergency management have to be carefully recalculated and evaluated for the individual patient and his situation. Metabolic center Heidelberg will not assume responsibility for any adverse outcome in any patient treated following the suggestions on its websites.
A. Endogenous intoxication triggered by catabolism
General approach – promote anabolism!
Provide energy with i.v. glucose
| Age | Glucose infusion (rate) |
|---|---|
| 0-12 months | 10-15 g/kg/d |
| 1-3 years | 10-12 g/kg/d |
| 4-10 years | 7-10 g/kg/d |
| 11-15 years | 4-7 g/kg/d |
| > 16 years | 3-5 g/kg/d |
- Add insulin starting with 0,1 I.E./kg h. Increase when blood glucose concentration exceeds 120 mg/dl (8 mmol/l).
- consider fat i.v. at a rate of 1-2 g/kg day (only when fatty acid oxidation defects are excluded/highly unlikely).
- Assess lactic acid concentraion and blood gases every hour. In case of rising lactic acid levels reduce glucose infusion and contact metabolic specialist.
B: Disorders of glucose homeostasis without endogenous intoxication
General approach – provision of glucose i.v. or p.o.!
| Age | Glucose infusion (rate) |
|---|---|
| 0-12 months | 10-12 g/kg/d |
| 1-3 years | 8-10 g/kg/d |
| 4-10 years | 6-8 g/kg/d |
| 11-15 years | 4-6 g/kg/d |
| > 16 years | 3-5 g/kg/d |
- assess lactic acid concentrations and blood sugar frequently!
- In hyperinsulinism > 15 g/kg/d may be required
C: Disorders of energy supply from glucose indicated by lactic academia and ketosis
General approach – promote anabolism, restrict glucose!
| Age | Glucose infusion (rate) |
|---|---|
| 0-12 months | 7-10 g/kg/d |
| 1-3 years | 5-7 g/kg/d |
| 4-10 years | 4-5 g/kg/d |
| 11-15 years | 3-4 g/kg/d |
| > 16 years | 1-3 g/kg/d |
- assess lactic acid concentrations and blood glucose concentration every hour!
- Add fat i.v. at 2-4 g/kg/d when fatty acid oxidation defects are excluded
Recommended drug doses
Doses of drugs that should be available as „metabolic emergency drugs” in every NICU/ PICU.
| Drug (Generic) | Recommended doses | Indication |
|---|---|---|
| Arginine hydrochloride | Bolus: 1 mmol/kg in 1-2 hours i.v. Maintenance: 1 mmol/kg/day | Hyperammonaemia, most probably due to urea cycle defects |
| Sodium benzoate | Bolus: 250 mg/kg in 1-2 hours i.v, Maintenance: 250-500 mg/kg/day. | Hyperammonaemia, most probably due to urea cycle defects or organic aciduria |
| Sodium phenylacetate | Bolus: 250 mg/kg in 1-2 hours i.v, (only available as compound preparation with sodium benzoate (Ammonul(R) Maintenance: 250-500 mg/kg day p.o. | Hyperammonaemia, most probably due to urea cycle defects |
| L- Carnitine | Bolus: 50 mg/kg in 1-2 hours i.v. Maintenance: 100 mg/kg/day | only when a defect of long-chain fatty acid oxidation is excluded |
Doses of the vitamines/co-enzymes may be used within the first 3 years of life without any weight adjustment. In general doses may be doubled after the 3rd year.
| Drug | Recommended dose | Indication |
|---|---|---|
| Hydroxocobalamin (Vitamin B12) | 1 mg/day i.m. | Methylmalonic aciduria |
| Biotin (Vitamin H) | 3 x 5 mg/day p.o. | Lactic acidosis |
| Thiamine (Vitamin B1) | 3 x 50 mg/day p.o./i.v. | Lactic acidosis |
| Riboflavin (Vitamin B2) | 3 x 50 mg/day p.o./i.v. | Lactic acidosis |
| Coenzyme Q10 (Ubichinon) | 3 x 25 mg/day p.o. | Lactic acidosis |
| Vitamin C | 3 x 200 mg/day p.o./i.v. | Lactic acidosis |
In (refractory) neonatal seizures:
| Drug | Recommended dose |
|---|---|
| Pyridoxin (Vitamin B6) | Repeatedly 100 mg i.v., up to 500 mg total; continue with 30 mg/kg/d p.o. for 3-7 days |
| Pyridoxal phosphate | 30-50 mg/kg/d p.o. for 3 days |
| Folinic acid | 3-5 mg/kg day i.v. for 3 days |
Caveat: After administration of pyridoxine or pyridoxal phosphate apnea is possible!
Suspicion of congenital hyperinsulinism:
| Drug | Recommended dose |
|---|---|
| Glukagon | Bolus: 30 µg/kg i.v./i.m. Maintenance 5-10 µg/kg/h i.v. |
| Diazoxide | 3 x 5 mg/kg/ d p.o. |
| Somatostatin | 5-30 µg/kg/d continously i.v. |
| Octreotide | 5-20 µg/kg/d s.c. in 4-6 doses |