Abstract
The diagnosis of inborn errors requires in addition to a thorough assessment of the medical history and clinical examination specialised diagnostic testing, including biochemical and molecular tests. Genetic counselling should be offered to all families due to the increased recurrence risk for future pregnancies. Basic diagnostic testing of blood (full blood count, electrolytes, glucose, acid-base status, creatine kinase, triglycerides, lactate and ammonium) as well as of urine (urine dipstick for glucose, protein and ketone bodies) will give a first impression as to whether an inborn error of metabolism may be likely. Importantly, additional samples should be drawn during the acute presentation prior to initiation of treatment and stored until further analysis. Some variants and atypical forms of inborn errors of metabolism may not be detected by newborn screening. If such a disorder is suspected clinically specific metabolic testing should be initiated even following a normal newborn screening result. It should also be kept in mind that newborn screening programmes only screen for a limited number of inborn errors of metabolism and that a normal screening result does not preclude the diagnosis of an inborn error of metabolism.
| Original language | German |
|---|---|
| Pages (from-to) | 987-996 |
| Number of pages | 10 |
| Journal | Monatsschrift fur Kinderheilkunde |
| Volume | 158 |
| Issue number | 10 |
| DOIs | |
| State | Published - Oct 1 2010 |
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Keywords
- Acute presentation
- Genetic counselling
- Inborn errors of metabolism
- Metabolic testing
- Neonatal screening
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Surgery
Cite this
Angeborene Stoffwechselstörungen : Akute Präsentation und Diagnostik. / Bodamer, O.
In: Monatsschrift fur Kinderheilkunde, Vol. 158, No. 10, 01.10.2010, p. 987-996.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Angeborene Stoffwechselstörungen
T2 - Akute Präsentation und Diagnostik
AU - Bodamer, O.
PY - 2010/10/1
Y1 - 2010/10/1
N2 - The diagnosis of inborn errors requires in addition to a thorough assessment of the medical history and clinical examination specialised diagnostic testing, including biochemical and molecular tests. Genetic counselling should be offered to all families due to the increased recurrence risk for future pregnancies. Basic diagnostic testing of blood (full blood count, electrolytes, glucose, acid-base status, creatine kinase, triglycerides, lactate and ammonium) as well as of urine (urine dipstick for glucose, protein and ketone bodies) will give a first impression as to whether an inborn error of metabolism may be likely. Importantly, additional samples should be drawn during the acute presentation prior to initiation of treatment and stored until further analysis. Some variants and atypical forms of inborn errors of metabolism may not be detected by newborn screening. If such a disorder is suspected clinically specific metabolic testing should be initiated even following a normal newborn screening result. It should also be kept in mind that newborn screening programmes only screen for a limited number of inborn errors of metabolism and that a normal screening result does not preclude the diagnosis of an inborn error of metabolism.
AB - The diagnosis of inborn errors requires in addition to a thorough assessment of the medical history and clinical examination specialised diagnostic testing, including biochemical and molecular tests. Genetic counselling should be offered to all families due to the increased recurrence risk for future pregnancies. Basic diagnostic testing of blood (full blood count, electrolytes, glucose, acid-base status, creatine kinase, triglycerides, lactate and ammonium) as well as of urine (urine dipstick for glucose, protein and ketone bodies) will give a first impression as to whether an inborn error of metabolism may be likely. Importantly, additional samples should be drawn during the acute presentation prior to initiation of treatment and stored until further analysis. Some variants and atypical forms of inborn errors of metabolism may not be detected by newborn screening. If such a disorder is suspected clinically specific metabolic testing should be initiated even following a normal newborn screening result. It should also be kept in mind that newborn screening programmes only screen for a limited number of inborn errors of metabolism and that a normal screening result does not preclude the diagnosis of an inborn error of metabolism.
KW - Acute presentation
KW - Genetic counselling
KW - Inborn errors of metabolism
KW - Metabolic testing
KW - Neonatal screening
UR - http://www.scopus.com/inward/record.url?scp=78649355540&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=78649355540&partnerID=8YFLogxK
U2 - 10.1007/s00112-010-2241-1
DO - 10.1007/s00112-010-2241-1
M3 - Article
AN - SCOPUS:78649355540
VL - 158
SP - 987
EP - 996
JO - Monatsschrift fur Kinderheilkunde
JF - Monatsschrift fur Kinderheilkunde
SN - 0026-9298
IS - 10
ER -