Clinical approach to inherited metabolic diseases
JM Saudubray, HO de Baulny… - Inborn metabolic diseases …, 1995 - Springer
JM Saudubray, HO de Baulny, C Charpentier
Inborn metabolic diseases: diagnosis and treatment, 1995•SpringerInborn errors of metabolism are individually rare, but collectively numerous. As a whole, they
cannot be recognized through systematic neonatal screening tests, which are too slow, too
expensive orunreliable. This makes it an absolute necessity to use a simple method of
clinical screening before deciding to initiate sophisticated biochemical investigations.
Clinical diagnosis of inborn errors of metabolism may at times be difficult. A number of
generally accepted ideas contribute to this difficulty: Many physicians think that because …
cannot be recognized through systematic neonatal screening tests, which are too slow, too
expensive orunreliable. This makes it an absolute necessity to use a simple method of
clinical screening before deciding to initiate sophisticated biochemical investigations.
Clinical diagnosis of inborn errors of metabolism may at times be difficult. A number of
generally accepted ideas contribute to this difficulty: Many physicians think that because …
Abstract
Inborn errors of metabolism are individually rare, but collectively numerous. As a whole, they cannot be recognized through systematic neonatal screening tests, which are too slow, too expensive orunreliable. This makes it an absolute necessity to use a simple method of clinical screening before deciding to initiate sophisticated biochemical investigations. Clinical diagnosis of inborn errors of metabolism may at times be difficult. A number of generally accepted ideas contribute to this difficulty:
- Many physicians think that because individual inborn errors are rare, they should be considered only after more common conditions (such as sepsis) have been excluded.
- In view of the large number of inborn errors, it might appear that their diagnosis requires precise knowledge of a large number of biochemical pathways and their interrelationships. As a matter of fact, adequate diagnostic approach can be based on the proper use of only a few screening tests.
- The neonate has an apparently limited repertoire of responses to severe overwhelming illness, and the predominant clinical signs and symptoms are nonspecific: poor feeding, lethargy, failure to thrive etc. It is certain that many patients with such defects succumb in the newborn period without having received a specific diagnosis, death often having been attributed to sepsis or other common causes.
- Classical autopsy findings in such cases are often unspecific. Infection is often suspected as the cause of the death, since sepsis is a common accompaniment of metabolic disorders.
- Many general practitioners and pediatricians only think of inborn errors of metabolism in very unspecific clinical circumstances such as psychomotor retardation or seizures. Conversely, they ignore most of the highly specific symptoms which are excellent keys to the diagnosis. Another common mistake is to confuse “syndrome” (such as Leigh syndrome or Reye syndrome), which is a set of symptoms possibly due to different causes, with the etiology itself.
- Although most genetic metabolic errors are hereditary and transmitted as recessive disorders, the majority of cases appear sporadic, because of the small size of sibships in developed countries.
- Finally, “hereditary” does not mean “congenital,” and many patients can present a late onset form in childhood, adolescence, or even in adulthood.
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