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Long‐term metabolic follow‐up and clinical outcome of 35 patients with maple syrup urine disease
Author(s) -
AbiWardé MarieThérèse,
Roda Célina,
Arnoux JeanBaptiste,
Servais Aude,
Habarou Florence,
Brassier Anais,
Pontoizeau Clément,
Barbier Valérie,
Bayart Manuella,
Leboeuf Virginie,
ChadefauxVekemans Bernadette,
Dubois Sandrine,
Assoun Murielle,
Belloche Claire,
Alili JeanMeidi,
Husson MarieCaroline,
Lesage Fabrice,
Dupic Laurent,
Theuil Benoit,
Ottolenghi Chris,
Lonlay Pascale
Publication year - 2017
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-017-0083-x
Subject(s) - maple syrup urine disease , psychosocial , cohort , medicine , anxiety , mood , pediatrics , medical record , leucine , psychiatry , amino acid , biochemistry , chemistry
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.