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

被引：24

作者：

Abi-Warde, Marie-Therese ^{[1
]}

Roda, Celina ^{[1
]}

Arnoux, Jean-Baptiste ^{[1
]}

Servais, Aude ^{[1
,2
]}

Habarou, Florence ^{[1
,3
]}

Brassier, Anais ^{[1
]}

Pontoizeau, Clement ^{[3
]}

Barbier, Valerie ^{[1
]}

Bayart, Manuella ^{[1
]}

Leboeuf, Virginie ^{[1
]}

Chadefaux-Vekemans, Bernadette ^{[1
,3
]}

Dubois, Sandrine ^{[1
]}

Assoun, Murielle ^{[1
]}

Belloche, Claire ^{[1
]}

Alili, Jean-Meidi ^{[4
]}

Husson, Marie-Caroline ^{[4
]}

Lesage, Fabrice ^{[1
,5
]}

Dupic, Laurent ^{[1
,5
]}

Theuil, Benoit ^{[6
]}

Ottolenghi, Chris ^{[1
,3
]}

de Lonlay, Pascale ^{[1
]}

机构：

[1] Univ Paris 05, Reference Ctr Inherited Metab Dis, Hosp Necker Enfants Malad, AP HP,Inst Imagine, Paris, France

[2] Univ Paris 05, Dept Nephrol Transplantat, Hosp Necker Enfants Malad, AP HP, Paris, France

[3] Univ Paris 05, Metab Biochem, Hosp Necker Enfants Malad, AP HP, Paris, France

[4] AP HP, AGEPS, Pharmaceut Estab APHP, Paris, France

[5] Univ Paris 05, Hosp Necker Enfants Malad, AP HP, Intens Care Unit, Paris, France

[6] Univ Denis Diderot Paris 7, Dept Child & Adolescent Psychiat, Hosp Bichat Claude Bernard, AP HP, Paris, France

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2017年 / 40卷 / 06期

关键词：

Decompensation; Maple syrup urine disease; MSUD; Psychosocial outcome; Leucine; BRAIN ENERGY-METABOLISM; LIVER-TRANSPLANTATION; MSUD; DECOMPENSATION; INHIBITION; MANAGEMENT; DIAGNOSIS; CHILDREN; LEUCINE; IMPACT;

D O I：

10.1007/s10545-017-0083-x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 mu mol/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.

引用

页码：783 / 792

页数：10

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