Guidelines to managing acute illness in patients with specific inborn errors

Summary of major biochemical features and emergency treatments for various metabolic disorders.

ACUTE ILLNESS GUIDELINES FOR TREATMENT

The table below indicates the major biochemical features and emergency treatments for various metabolic disorders.

 

Major Biochemical Features

Emergency treatment

Intoxication Disorders

Maple Syrup Disease

  • Branched chain a-ketoacids

Hypoglycemia

Ketoacidosis

Elevated BCAA

Urine a-ketoacids

Stop precursors (whole protein)

  • IV glucose + insulin
  • Maintain electrolytes
  • Treat acidosis
  • Na ³140 mg/dL to prevent cerebral edema
  • Fluid restriction (100-120mL/kg/24 hour) to reduce risk of cerebral edema

Enhance protein anabolism

  • High energy feeds (120-150 kcal/kg/d)
  • Provide BCAA-free medical food
  • ILE and VAL suppl

Remove toxic metabolites

  • Dialysis (dependent on severity of acute illness and plasma concentration of toxins)

Thiamin (5 mg/kg/d)

PPA and MMA

  • Methylmalonic acid
  • Propionyl-CoA
  • Propionic acid
  • Ammonia

Hypoglycemia

Ketoacidosis

Hyperammonemia

Neutropenia

Hyperglycinemia

  • Stop precursors (whole protein)
  • IV glucose + insulin
  • Maintain electrolytes
  • Treat acidosis
  • Na ³140 mg/dL

Enhance protein anabolism

  • High energy feeds (120-150 kcal/kg/d)
  • Medical food free of ILE, MET, THR, VAL
  • ILE or VAL suppl, if indicated

MMA--Vitamin B12, 1-2 mg/week, hydroxy- cobalamin (IM)

PPA—oral biotin 10-20 mg/d Remove toxic metabolites

  • Metronidazole (reduces gut propionate)
  • IV L-Carnitine (100 mg/kg/d. Titrate to normalize plasma free conc.)

Na benzoate (tx of hyperammonemia) (Ogier de Baulny et al, 2005)

Isovaleric acidemias

Hypoglycemia

Ketoacidosis

Hyperammonemia

Neutropenia

Hyperglycinemia

  • Stop precursors (whole protein)
  • IV glucose + insulin
  • Maintain electrolytes
  • Treat acidosis
  • Na ³140 mg/dL to prevent cerebral edema
  • Fluid restriction (100-120 mL/kg/24 hour) to reduce risk of cerebral edema

Enhance protein anabolism

  • High energy feeds (120-150 kcal/kg/d)
  • Medical food free of LEU

Remove toxic metabolites

  • Dialysis (if NH3 >600 µmol/L)
  • IV L-Carnitine (100 mg/kg/d. Titrate to normalize plasma free conc.)
  • Glycine suppl. (250 mg/kg/d) (Ogier de Baulny, 2002)

Urea Cycle Disorders

Hyperammonemia with normal anion gap and blood glucose (Summar, 2001) 

Respiratory alkalosis (Summar, 2001) 

Elevated plasma glutamine

  • Stop precursors (whole protein)
  • IV glucose (10% with ¼ NS) + lipids

High energy feeds (120-130 kcal/kg)

Reverse hyperammonemia

  • Hemodialysis
  • Sodium benzoate
  • Sodium phenylacetate
  • Arginine (except in Argininemia)

AVOID: carnitine, IV sodium (already provided in therapies above, e.g. sodium phenylacetate etc...)

Fasting Intolerance Disorders

Glycogen Storage Disease
Type 1a

Hypoglycemia

Hyperlacticacidemia

Hyperuricemia

Hypertriacylglycerolemia

Hypercholesterolemia

  • IV glucose
  • Continuous nasogastric feedings
  • GIR to maintain normoglycemia: Infants 7-9 mg/kg/min (Fernandes et al 1988)
  • Avoid fructose and galactose

Uncooked cornstarch (1.5-2.5g/kg/feed or as tolerated)