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13.09.2017 | Original Article | Ausgabe 6/2017

Journal of Inherited Metabolic Disease 6/2017

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease

Zeitschrift:
Journal of Inherited Metabolic Disease > Ausgabe 6/2017
Autoren:
Marie-Thérèse Abi-Wardé, Célina Roda, Jean-Baptiste Arnoux, Aude Servais, Florence Habarou, Anais Brassier, Clément Pontoizeau, Valérie Barbier, Manuella Bayart, Virginie Leboeuf, Bernadette Chadefaux-Vekemans, Sandrine Dubois, Murielle Assoun, Claire Belloche, Jean-Meidi Alili, Marie-Caroline Husson, Fabrice Lesage, Laurent Dupic, Benoit Theuil, Chris Ottolenghi, Pascale de Lonlay
Wichtige Hinweise
Responsible Editor: Johannes Häberle
Marie-Thérèse Abi-Wardé and Célina Roda are co-first authors

Abstract

Background

Maple syrup urine disease (MSUD) is a rare disease that requires a protein-restricted diet for successful management. Little is known, however, about the psychosocial outcome of MSUD patients. This study investigates the relationship between metabolic and clinical parameters and psychosocial outcomes in a cohort of patients with neonatal-onset MSUD.

Methods

Data on academic achievement, psychological care, family involvement, and biochemical parameters were collected from the medical records of neonatal MSUD patients treated at Necker Hospital (Paris) between 1964 and 2013.

Results

Thirty-five MSUD patients with a mean age of 16.3 (2.1–49.0) years participated. Metabolic decompensations (plasma leucine >380 μmol/L) were more frequent during the first year of life and after 15 years, mainly due to infection and dietary noncompliance, respectively. Leucine levels increased significantly in adulthood: 61.5% of adults were independent and achieved adequate social and professional integration; 56% needed occasional or sustained psychological or psychiatric care (8/19, with externalizing, mood, emotional, and anxiety disorders being the most common). Patients needing psychiatric care were significantly older [mean and standard deviation (SD) 22.6 (7.7) years] than patients needing only psychological follow-up [mean (SD) 14.3 (8.9) years]. Patients with psychological follow-up experienced the highest lifetime number of decompensations; 45% of families had difficulty coping with the chronic disease. Parental involvement was negatively associated with the number of lifetime decompensations.

Conclusion

Adults had increased levels of plasma leucine, consistent with greater chronic toxicity. Psychological care was associated with age and number of decompensations. In addition, parental involvement appeared to be crucial in the management of MSUD patients.

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