Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Plecko, B; Stockler-Ipsiroglu, S.
Macrocephaly as a feature of inborn errors of metabolism
MONATSSCHR KINDERHEILK 2001 149: 137-146.
Doi: 10.1007/s001120050739
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- Führende Autor*innen der Med Uni Graz
- Plecko Barbara
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- Abstract:
- Background. Macrocephaly may be a leading sign of neurometabolic diseases and thus a guide for metabolic work-up. Illustrated by reports of four patients the group of neurometabolic diseases presenting with macrocephaly is discussed.Patients. We present case histories on the clinical course, biochemical and radiologic findings of patients with glutaric aciduria type I, Canavan's Disease, L-2-OH-glutaric aciduria and one patient with macrocephaly and isolated complex I deficiency of the respiratory chain.Discussion. According to the relative frequency of organoacidurias and the option of preventive treatment for patients with glutaric aciduria type I, organic acid analysis should be performed vigorously also in neurologically asymptomatic patients with unclear macrocephaly. MR Spectroscopy might be diagnostically helpful in patients with Canavan's Disease or can provide information on intracerebral metabolites in diseases of unknown etiology (e.g. L-2-Hydroxyglutaric aciduria). Macrocephaly in a patient with isolated complex I deficiency of the respiratory chain illustrates, that it may be a facultative finding in other neurometabolic diseases commonly not associated with macrocephaly.
- Find related publications in this database (Keywords)
- inborn errors
- glutaric aciduria type I
- Canavan's disease
- L-2-hydroxyglutaric aciduria
- respiratory chain defect