Protocol for Investigation of Metabolic Disease in Acutely
Ill Neonates and Young Children
Department of Chemical Pathology
The Chinese University of Hong Kong
Faculty of Medicine/
Prince of Wales Hospital
Shatin, N.T.
Appendix 1 Test Profiles in Selected Metabolic Disorders
Plasma/ Blood Urine
Glu NH3 AA pH Ketones Sug AA GLC
Disease Group and Disease Na/K
1. Urea Cycle Defects
Carbamoylphosphate + + +
synthase (CPS 1)
deficiency
Ornithine + + +
carbamoyltransferase
deficiency
Citrullinuria or + D D
citrullinaemia
Arginosuccinate synthase
deficiency
Argininosuccinic + D D
aciduria, ASA-uria
ASA-lyase deficiency
Hyperornithinaemia + + +
Lysinuric protein + +
intolernace (LPI) with
dibasic aminoaciduria
Plasma/ Blood Urine
Glu NH3 AA pH Ketones Sug AA GLC
Disease Group and Disease Na/K
2. Amino Acid Defects
Maple syrup urine disease (dec) D + + + D
(MSUD),
Branched chain
ketoacidosis
Non-ketotic + +
hyperglycinaemia (NKHG)
Tyrosinaemia Type 1 + + D
(Fumarylacetoacetase
deficiency)
Pyroglutamic aciduria + D
(5-Oxoprolinuria)
Plasma/ Blood Urine
Glu NH3 AA pH Ketones Sug AA GLC
Disease Group and Disease Na/K
3. Organic acidurias
Isovaleric acidaemia + + + + + D
("Sweaty foot
syndrome")
-Methylcrotonyl-CoA + + + + + D
carboxylase
deficiency
-Hydroxy--methylglutaric dec + + D
acidura
-Ketothiolase deficiency + + + + D
2-Methyl-3-hydroxy-butyric
aciduria
Methylmonic acidurias dec + + + + + D
Propionic acidaemia. dec + + + + + D
Propionyl-CoA
carboxylase deficiency
Glutaric aciduria. dec + D
Glutaryl-CoA
dehydrogenase deficiency
Plasma/ Blood Urine
Glu NH3 AA pH Ketones Sug AA GLC
Disease Group and Disease Na/K
4. Endocrine disorders
Congenital adrenal NaK dec
hyperplasia
21-hydroxylase
deficiency
Plasma/ Blood Urine
Glu NH3 AA pH Ketones Sug AA GLC
Disease Group and Disease Na/K
5. Carbohydrate disorders
Galactosaemia; (dec) + + U-Gal + +
galactose-1-phosphate
uridyl transferase
deficiency
Hereditary fructose + + U-Fru + +
intolerance
Fructose-1-PO4aldolase
deficiency
Fructose-1,6 dec + + + Lactate
diphosphatase deficiency
Phosphoenolpyruvate dec + + + Lactate
carboxy kinase
deficiency
Pyruvate carboxylase dec + Lactate
deficiency
Pyruvate dehydrogenase (dec) + Lactate
deficiency
Glycogen storage disease dec + + Lactate
Type 1:
Glucose-1-phosphatose
deficiency
Glycogen storage disease
Type 2:
a-1,4-glucosidase
deficiency
Key:
(dec) Possible hypoglycaemia
dec Definite hypoglycaemia
+ Positive finding
+ Not positive in
all cases
NaKdec decrease in Na & K
D Diagnostically significant
Lactate Lactate present
in urine (by gas chromatography)
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