Premium
Clinical approach to inherited metabolic diseases in the neonatal period: A 20‐year survey
Author(s) -
Saudubray J. M.,
Ogier H.,
Bonnefont J. P.,
Munnich A.,
Lombes A.,
Hervé F.,
Mitchel G.,
Poll Thé B.,
Specola N.,
Parvy P.,
Bardet J.,
Rabier D.,
Coudé M.,
Charpentier C.,
Frézal J.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799284
Subject(s) - medicine , pediatrics , biotinidase deficiency , ketosis , inborn error of metabolism , fetal distress , intensive care medicine , metabolic acidosis , newborn screening , prenatal diagnosis , pregnancy , fetus , endocrinology , diabetes mellitus , biology , genetics
Summary Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these diseases respond well to treatment but may otherwise be fatal, and in order to assure adequate prenatal diagnosis in subsequent pregnancies, a high index of suspicion and rapid diagnosis are necessary in the face of the clinical presentations described. According to three major clinical presentations observed in 218 neonates with inborn errors of intermediary metabolism (neurological distress ‘intoxication’ type, neurological distress ‘energy deficiency’ type and hypoglycaemia with liver dysfunction) and according to the proper use of few laboratory investigations, we propose a method of diagnosis which groups these children into five categories. Initial therapy, and sophisticated investigations can be planned on the basis of this grouping.