The possibility of an inborn error of metabolism is very unlikely if there
is no ketonuria (excludes propionic and methylmalonic acidemias) and the
following laboratory values are in the normal range: (1) blood glucose
(excludes carbohydrate and fatty acid abnormalities); (2) ammonia level
(excludes a urea cycle defect); (3) lactic acid (excludes pyruvate, citric
acid, and mitochondrial respiratory chain abnormalities); and (4) sulfite
in blood and urine (excludes sulfite oxidase deficiency and molybdenum
cofactor deficiency). A neonate with these findings should be tentatively
considered to not have an inborn error of metabolism until more specific
tests such as biotinidase level, acyl and total carnitine, pyruvate, serum
for organic and amino acids, urine organic acids, and cerebrospinal fluid
lactic acid and glycine results are available.
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