Abstract
Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare
neurometabolic disorder that is considered treatable if
patients are identified before the onset of acute
encephalopathic crises. To allow early identification of
affected individuals, tandem mass spectrometry-based
newborn screening for GCDH deficiency has been started in
Germany in 1999. We prospectively followed neonatally
screened patients (n=38) and compared the neurologic
outcome with patients from a historical cohort (n=62). In
the majority of neonatally screened children, the onset of
encephalopathic crises has been prevented (89\%), whereas
acute encephalopathic crises or progressive neurologic
impairment was common in the historical cohort. Neonatal
screening in combination with intensive management is
effective--even assuming ascertainment bias in the
historical cohort. Similar proportions of commonest
mutations and biochemical phenotypes (high and low
excretors) were found in neonatally screened and historical
patients. However, potential predictor variables for mild
clinical phenotypes are not yet known and thus a selection
of these patients by newborn screening is not excluded. No
patient was known to be missed by newborn screening from
1999 to 2005. In conclusion, this study confirms that
newborn screening for GCDH deficiency in combination with
intensive management is beneficial.
Users
Please
log in to take part in the discussion (add own reviews or comments).