Document Detail

Clinical approach to inherited metabolic disorders in neonates: an overview.
MedLine Citation:
PMID:  12069534     Owner:  NLM     Status:  MEDLINE    
There are almost one hundred inborn errors of metabolism which can start in the neonatal period, but less than 20 are amenable to treatment. In general, an extremely evocative clinical setting is the course of a full-term baby born after normal pregnancy and delivery who, after an initial symptom-free period deteriorates relentlessly for no apparent reason and does not respond to symptomatic therapy. Investigations routinely performed in all sick neonates yield normal results. Emergency treatment must be undertaken in parallel with investigations. Five main presentations can be observed: a neurologic deterioration 'intoxication' type mostly suggests maple syrup urine disease, methylmalonic, propionic, isovaleric acidaemias and urea cycle disorders. Isolated seizures is the revealing symptom of pyridoxine-responsive and folinic acid responsive seizures. A jaundice or a liver failure suggest galactosaemia, fructosaemia, tyrosinaemia type I (after 3 weeks), phosphomannoisomerase deficiency or bile acid synthesis defects. Cardiac failure and heartbeat disorders should first suggest mitochondrial fatty acid oxidation (FAO) disorders. Persistent hypoglycaemia is the presenting sign of glyco/gluconeogeneis defects, hyperinsulinism and FAO disorders. The first line investigation relies upon the collection at the same time of a few samples including blood gases electrolytes, prothrombin time, transaminases, ammonia and lactic acid, and the search for ketonuria. The storage of plasma, urine and blood (on filter paper) is an important element in the diagnosis. The utilization of these samples should be carefully planned after taking advice from specialists in inborn errors.
J M Saudubray; M C Nassogne; P de Lonlay; G Touati
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Seminars in neonatology : SN     Volume:  7     ISSN:  1084-2756     ISO Abbreviation:  Semin Neonatol     Publication Date:  2002 Feb 
Date Detail:
Created Date:  2002-06-18     Completed Date:  2002-10-02     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  9606001     Medline TA:  Semin Neonatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  3-15     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Published by Elsevier Science Ltd.
Department of Pediatrics - Metabolism, Hôpital Necker Enfants-Malades, Paris, France.
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MeSH Terms
Diagnosis, Differential
Infant, Newborn
Metabolism, Inborn Errors / classification,  diagnosis*

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