1. A 17 month old child with periodic Vomiting
F.Ahmadabadi MD
Child Neurologist

2. Positive findings Episodic Vomiting Periodic Acidosis
Developmental delay
Hyper uricemia
Hyper triglyceridemia
Organomegaly (Splenomegaly)
Pancytopenia (Cyclic)

3. Approach to Vomiting I Increased ICP V Vascular O Obstruction
M Metabolic disorders
I Infections
T Trauma-Toxins

4. We have a high anion gap Acidosis
Metabolic acidosis
Metabolic acidosis
AG=Na +K-(Cl+HCO3)=140+5-(109+4)=32
We have a high anion gap Acidosis M U D P I L E S
Metformin
Uremia
DKA
Phenformin
Iron Toxicity
Lactic acidosis
Ethanol
Salcylate
Methanol
Paraldehyde
IEM
Ethylen Glycol

5. Causes of Hyperuricemia
Alcoholic Ketoacidosis
Diabetic Ketoacidosis
Glycogen Storage Disease, Type Ia-TypeVII
Gout
Hemolytic Anemia
Hodgkin Disease
Hyperparathyroidism
Hypothyroidism
Nephrolithiasis
Nephropathy, Uric Acid
MCAD
Barth syndrome 3-methylglutaconic aciduria
Fanconi –Bickel syndrome

6. Causes of Hypertriglyceridemia
Type 2 diabetes mellitus
Cholestatic liver diseases
Nephrotic syndrome
Chronic renal failure
Hypothyroidism
Cigarette smoking
GSD1
Drugs
LPL Deficiency
Glycerol kinase deficiency
Lecithin cholesterol acyltransferase deficiency(LCAT)

7. Differential Diagnosis
GSD s
Organic acidemia
Fatty acid oxidation disorders
Acute metabolic decomponsation
Chronic involvement of tissues
Recurrent episodes of hypoketotic hypoglycemia
Alteration in total carnitine

8. Differentia diagnosis
GSDs
Organic acidemia
Organomegaly
Hypertriglyceridemia
Hyperuricemia
Acidosis
NDD
Neutropenia
But abcense of Hypoglycemia and normal facies is against it
Acidosis
Pancytopenia
MS/MS
NDD
Vomiting
Hyper ammonemia
But high TG & Uric acid don’t confirm it

9. G6P deficiency(GSD type I)Ia
Enlargedf liver and Kidneys
Hyperlipidemia
Hypoglycemia
Ketoacidosis
Seizure
FTT
TG and Uric acid High
Renal involvement Ib
Neutropenia
Epinephrin Test

10. Debrancher deficiency(GSD III )
Hepatomegaly
Hypoglycemia
Short stature
Myopathy
Cardiomyopath
Splenomegaly
No kidney enlargement
Normal uric acid
PCO
IIIa:Liver & Muscle
III b:liver

11. GSD VI (Phosphorylase deficiency)
Lactic and Uric acid normal
No cardiac or Muscular involvement
FTT
Hypertriglyceridemia
Hypoglycemia
Benign

12. Organic acidemias (3.7 per 100,000)
Propionic acidemia
Methyl malonicacidemia
Isovaleric acidemia
Glutaric aciduria

13. Management
Liver Biopsy
Urine Organic acids
EMG-NCV

14. Control of Hypoglycemia
Control of Hyper ammonemia
Correct the acidosis
Correct the Liver function

15. Remarks :MS/MS The most important part is Carnitine profile.
It is performed on Plasma or serum.
Urine has not diagnostic value.
Preferred specimen Collected after 6 h fasting or in acute illness
In marked carnitine deficiencyLoad patient with carnitine

16. Cont, Antibiotics containing the Pivaloyl group(Pivoxilsulbactam)
 False elevation of C5
MCT oil  Elevation of C8-C10
Carnitine  C2(Acethyl) ,C3 (Propionyl)
Prolonged fasting  Increased C2 ,OH-C4
Lactic acidosis  Elevates C3

17. Cont,
Higher than normal level of Free carnitine has not diagnostic value except CPT1 Def and severe cardiomyopathy.
Carnitine level is high at birth then fall to half the adult value and normalized after a few months.
Minor elevation(<1.5xUNL) of a single metabolite is not diagnostic.
MCAD & VLCAD  Carnitine deficiency