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Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow‐up parameters
Author(s) -
Boy Nikolas,
Haege Gisela,
Heringer Jana,
Assmann Birgit,
Mühlhausen Chris,
Ensenauer Regina,
Maier Esther M.,
Lücke Thomas,
Hoffmann Georg F.,
Müller Edith,
Burgard Peter,
Kölker Stefan
Publication year - 2013
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/s10545-012-9517-7
Subject(s) - asymptomatic , anthropometry , medicine , carnitine , guideline , pediatrics , weight gain , lysine , dietary management , gastroenterology , endocrinology , body weight , biology , amino acid , biochemistry , pathology
Background Metabolic treatment in glutaric aciduria type I (GA‐I) including a low lysine diet with lysine‐free, tryptophan‐reduced amino acid supplements (AAS), carnitine supplementation and early start of emergency treatment during putatively threatening episodes of intermittent febrile illness dramatically improves the outcome and thus has been recommended by an international guideline group (Kölker et al, J Inherit Metab Dis 30:5–22, 2007). However, possible affection of linear growth, weight gain and biochemical follow‐up monitoring has not been studied systematically. Methods Thirty‐three patients ( n = 29 asymptomatic, n = 4 dystonic) with GA‐I who have been identified by newborn screening in Germany from 1999 to 2009 were followed prospectively during the first six years of life. Dietary treatment protocols, anthropometrical and biochemical parameters were longitudinally evaluated. Results Mean daily intake as percentage of guideline recommendations was excellent for lysine (asymptomatic patients: 101 %; dystonic patients: 103 %), lysine‐free, tryptophan‐reduced AAS (108 %; 104 %), energy (106 %; 110 %), and carnitine (92 %; 102 %). Low lysine diet did not affect weight gain (mean SDS 0.05) but mildly impaired linear growth in asymptomatic patients (mean SDS −0.38), while dystonic patients showed significantly reduced weight gain (mean SDS −1.32) and a tendency towards linear growth retardation (mean SDS −1.03). Patients treated in accordance with recent recommendations did not show relevant abnormalities of routine biochemical follow‐up parameters. Interpretation Low lysine diet promotes sufficient intake of essential nutrients and anthropometric development in asymptomatic children up to age 6 year, whereas individualized nutritional concepts are required for dystonic patients. Revised recommendations for biochemical monitoring might be required for asymptomatic patients.