Table 4 Laboratory and metabolomics findings in the other detected inborn errors of metabolism (amino acidopathies, fatty acids oxidation defects, and lactic acidemia
From: Inherited metabolic disorders in a cohort of Egyptian children
Defect | Laboratory findings | MS/MS profile of acylcarnitine | MS/MS profile of amino acids | Diagnostic metabolites |
|---|---|---|---|---|
PKU | Metabolic acidosis | NR | High phe:tyr elevated phe | Phenyllactate, phenylpyruvate, phenylacetate (genetic assay for confirmation) |
MSUD | Metabolic acidosis ketosis | NR | Elevated Leu/Ile and valine | Alloisoleucine 2-oxoisocaproate and 2-hydroxyisovalerate |
Homocystinuria | Â | NR | High methionine | Measurement of homocystine in blood was done for confirmation |
Nonketotic hyperglycinemia | Hyperglycemia | NR | High glycine | Recommend measurement of Gly/CSF plasma ratio (this test was unavailable) |
FAO defects | Metabolic acidosis hypoglycemia mostly without ketosis (hypoketotic hypoglycemia) with elevated lactate level elevated lactate to pyruvate ratio | Increase C6-C10 Low level of C16 and C18:1 and high C0 in one case | NR | Elevated dicarboxylic acids such as adipic, suberic, dehydrosuberic, sebacic, dehydrosebacic, and modest amounts of 3-OH dicarboxylics-hexanoyl glycine. |
LA (after ruling out physiological causes) | Marked metabolic acidosis, high lactate | NR | NR | Elevated lactic acid 3 hydroxybuturic acid 4 hydroxyphenyllactic acid 4 hydroxyphenylpyruvic acid Enzyme and molecular genetic studies should be carried out when available and related to the initial tests as well as the clinical findings |