TY - JOUR
T1 - Biotin-Responsive Carboxylase Deficiency Associated with Subnormal Plasma and Urinary Biotin
AU - Thoene, Jess
AU - Baker, Herman
AU - Yoshino, Makoto
AU - Sweetman, Lawrence
AU - Thoene, Jess
PY - 1981/4/2
Y1 - 1981/4/2
N2 - AN increasing number of patients have been diagnosed as having biotin-responsive multiple carboxylase deficiency.1 2 3 4 5 6 7 8 This genetic disorder involves defects in the metabolism of biotin and produces deficiencies of at least three biotin-containing carboxylases: propionyl-CoA carboxylase (PCC), 3-methylcrotonyl-CoA carboxylase (MCC), and pyruvate carboxylase (PC). All patients have responded to oral administration of 10 mg or more of biotin per day, with normalization of the clinical and biochemical abnormalities. There appear to be two forms of the disorder: a neonatal form and a juvenile form. The neonatal form presents in the first weeks of life, with metabolic acidosis and ketosis and may. . .
AB - AN increasing number of patients have been diagnosed as having biotin-responsive multiple carboxylase deficiency.1 2 3 4 5 6 7 8 This genetic disorder involves defects in the metabolism of biotin and produces deficiencies of at least three biotin-containing carboxylases: propionyl-CoA carboxylase (PCC), 3-methylcrotonyl-CoA carboxylase (MCC), and pyruvate carboxylase (PC). All patients have responded to oral administration of 10 mg or more of biotin per day, with normalization of the clinical and biochemical abnormalities. There appear to be two forms of the disorder: a neonatal form and a juvenile form. The neonatal form presents in the first weeks of life, with metabolic acidosis and ketosis and may. . .
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U2 - 10.1056/NEJM198104023041404
DO - 10.1056/NEJM198104023041404
M3 - Article
C2 - 6782477
AN - SCOPUS:0019503219
SN - 0028-4793
VL - 304
SP - 817
EP - 820
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 14
ER -