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Title :Isovaleric acidemia : Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study
Authors :Chinen, Yasutsugu
Nakamura, Sadao
Tamashiro, Kunihito
Sakamoto, Osamu
Tashiro, Kyoko
Inokuchi, Takahiro
Nakanishi, Koichi
Issue Date :Jun-2017
Abstract :Isovaleric acidemia (IVA) is an organic acid disease caused by a deficiency of isovaleryl-CoA dehydrogenase. Deficiency of this enzyme leads to accumulation of organic acids, such as isovalerylcarnitine and isovalerylglycine. The proposed IVA treatments include leucine restriction and l-carnitine and/or glycine supplementation, which convert isovaleric acid into non-toxic isovalerylcarnitine and isovalerylglycine, respectively. We examined the therapeutic response using the leucine load test and performed a 10-year follow-up in the patient. Methods:We evaluated the patient with IVA beginning at 5 years of age, when he presented with a mild to intermediate metabolic phenotype. Ammonia, free carnitine, isovalerylcarnitine, and isovalerylglycine were analyzed in the urine and blood after a meal consisting of 1600 mg leucine with glycine alone (250 mg/kg/day), l-carnitine alone (100 mg/kg/day), or both glycine and l-carnitine for four days each. Results:(Leucine load test) Three hours after the meal, serum ammonia levels increased most dramatically with glycine treatment alone, then with both in combination, and least with l-carnitine alone. Urinary isovalerylglycine levels increased 2-fold more with glycine supplementation than those following supplementation with both agents or with l-carnitine alone. Treatment with both agents resulted in a gradual increase in urinary acylcarnitine levels during the 6-h period following the leucine load, reaching concentrations comparable to those observed with l-carnitine alone. (Clinical course) After initiation of both glycine (200 mg/kg/day) and l-carnitine (100 mg/kg/day) supplementation at 5 years of age, doses were gradually reduced to 111.7 mg/kg/day and 55.8 mg/kg/day, respectively, at 15 years of age. His mind and body had developed without any sequelae. Discussion:We concluded that l-carnitine conjugated isovaleric acid earlier than glycine. Additionally, during the 10-year follow-up period, the patient displayed no clinical deterioration.
URL :https://doi.org/10.1016/j.ymgmr.2017.03.002
Type Local :雑誌掲載論文
ISSN :2214-4269
Publisher :Elsevier
URI :http://hdl.handle.net/20.500.12000/45971
Citation :Molecular Genetics and Metabolism Reports Vol.11 p.2 -5
Appears in Collections:Peer-reviewed Journal Articles (Faculty of Medicine)

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