Emergency treatment: Heidelberg University Hospital

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.

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.

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

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

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 (up to 3 mmol/kg/24 h in ASL deficiency)	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

Emergency treatment

A. Endogenous intoxication triggered by catabolism

B: Disorders of glucose homeostasis without endogenous intoxication

C: Disorders of energy supply from glucose indicated by lactic academia and ketosis

Recommended drug doses