Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria

Summary We report the fourth case of combined d‐and L‐2‐hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 2005-12, Vol.28 (6), p.1149-1150
Hauptverfasser:	Read, M.‐H., Bonamy, C., Laloum, D., Belloy, F., Constans, J. M., Guillois, B., Kottler, M.‐L., Verhoeven, N. M., Jakobs, C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Brain - pathology Brain Diseases, Metabolic, Inborn - diagnosis Brain Diseases, Metabolic, Inborn - metabolism Cysts - diagnosis Electroencephalography Fatal Outcome Female Fumarates - blood Glutarates - metabolism Humans Infant, Newborn Magnetic Resonance Imaging - methods Magnetic Resonance Spectroscopy - methods Male Malonates - blood Medical genetics Medical sciences Metabolic diseases Muscle Hypotonia Seizures Stereoisomerism
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Beschreibung
Zusammenfassung:	Summary We report the fourth case of combined d‐and L‐2‐hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.
ISSN:	0141-8955 1573-2665
DOI:	10.1007/s10545-005-4565-x