TY - JOUR
T1 - Biochemical effect of intravenous arginine butyrate in X-linked adrenoleukodystrophy
AU - McGovern, Margaret M.
AU - Wasserstein, Melissa P.
AU - Aron, Alan
AU - Perrine, Susan P.
N1 - Funding Information:
Supported by a grant (MO1-RR-00071) awarded to the Mount Sinai School of Medicine General Clinical Research Center from the National Center of Research Resources and by the Timothy Crane Foundation. Arginine butyrate was provided by Susan P. Perrine, MD, from Boston University Medical Center, whose laboratory was supported by NIH grants DK-52962 and HL-61208.
PY - 2003/6/1
Y1 - 2003/6/1
N2 - Objectives: To determine the bioehemieal and elinieal effeets of intravenous arginine butyrate in X-linked Adrenoleukodystrophy (X-ALD). Study design: Arginine butyrate was intravenously infused over a 4-month period in a patient with the rapid cerebral form of X-ALD. Very long chain fatty acids (VLCFA), complete blood counts, and serum chemistries were monitored, and serial MRI of the brain and clinical neurologic examinations were performed. Results: All blood chemical and hematologic values remained within the normal range for age throughout the therapy. After completion of the first day of infusion, the C 26:0 value fell from 1.01 μg/mL to 0.445 μg/mL, which is below the mean value for an X-ALD heterozygote. Throughout the remainder of the trial, all C26:0 levels fell below the mean -1 SD for X-ALD hemizygotes (mean, 1.18 μg/mL, 1 SD = 0.53), ranging from 0.321 to 0.565 μg/mL. Despite reduction of the plasma VLCFA, the patient continued to deteriorate neurologically. Conclusions: Intravenous arginine butyrate resulted in a rapid decrease in plasma VLCFA but no effect on the neurologic progression of the disease in this patient. Additional studies are needed to determine minimum effective dosage and interval, what proportion of patients respond, and whether the agent can prevent neurologic degeneration.
AB - Objectives: To determine the bioehemieal and elinieal effeets of intravenous arginine butyrate in X-linked Adrenoleukodystrophy (X-ALD). Study design: Arginine butyrate was intravenously infused over a 4-month period in a patient with the rapid cerebral form of X-ALD. Very long chain fatty acids (VLCFA), complete blood counts, and serum chemistries were monitored, and serial MRI of the brain and clinical neurologic examinations were performed. Results: All blood chemical and hematologic values remained within the normal range for age throughout the therapy. After completion of the first day of infusion, the C 26:0 value fell from 1.01 μg/mL to 0.445 μg/mL, which is below the mean value for an X-ALD heterozygote. Throughout the remainder of the trial, all C26:0 levels fell below the mean -1 SD for X-ALD hemizygotes (mean, 1.18 μg/mL, 1 SD = 0.53), ranging from 0.321 to 0.565 μg/mL. Despite reduction of the plasma VLCFA, the patient continued to deteriorate neurologically. Conclusions: Intravenous arginine butyrate resulted in a rapid decrease in plasma VLCFA but no effect on the neurologic progression of the disease in this patient. Additional studies are needed to determine minimum effective dosage and interval, what proportion of patients respond, and whether the agent can prevent neurologic degeneration.
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U2 - 10.1067/mpd.2003.201
DO - 10.1067/mpd.2003.201
M3 - Article
C2 - 12838202
AN - SCOPUS:0038809137
SN - 0022-3476
VL - 142
SP - 709
EP - 713
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 6
ER -