volume 99, issue 4, P567-574 1997
DOI: 10.1542/peds.99.4.567
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K. M. Gibson, E. Christensen, C. Jakobs, B. Fowler, M. A. Clarke, G. Hammersen, K. Raab, J. Kobori, A. Moosa, B. Vollmer, E. Rossier, A. K. Iafolla, D. Matern, O. F. Brouwer et al.

Abstract: ABSTRACT. Objectives. To further define the clinical spectrum of the disease for pediatric and metabolic spe cialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde de hydrogenase (SSADH) deficiency in the differential di agnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative or ganic acid analysis in such patients.Patients. The clinical features of 23 patients (20 fam ilies) with SSADH deficiency (4-hy…

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