Clinical diagnosis of the inborn errors of metabolism in the neonatal period

Symptoms in the newborn which should alert the clinician to the possibility of an inborn error of metabolism are defined. These include vomiting, diarrhea, jaundice, seizures, hepatomegaly, coarse facial features, abnormal urinary odor and respiratory distress. An approach to the selective use of so...

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Bibliographic Details
Published in:Pediatrics (Evanston) 1978-03, Vol.61 (3), p.398-405
Main Authors: Burton, Barbara K, Nadler, Henry L
Format: Article
Language:English
Subjects:
Clinical diagnosis
Diarrhea, Infantile - etiology
Face
Hepatomegaly - etiology
Humans
Infant, Newborn
Infant, Newborn, Diseases - diagnosis
infants
inherited metabolic diseases
Jaundice - etiology
metabolic diseases
Metabolism, Inborn Errors - complications
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - urine
Odorants
Respiratory Distress Syndrome, Newborn - etiology
Seizures - etiology
urine analysis
Vomiting - etiology
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Description
Summary:Symptoms in the newborn which should alert the clinician to the possibility of an inborn error of metabolism are defined. These include vomiting, diarrhea, jaundice, seizures, hepatomegaly, coarse facial features, abnormal urinary odor and respiratory distress. An approach to the selective use of some simple laboratory tools in infants suspected of having a metabolic disease is described. Tables list inborn errors of metabolism in the neonatal period, major clinical manifestations and laboratory findings, and disorders associated with abnormal urinary odor and positive ferric chloride reaction.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.61.3.398