TY - JOUR
T1 - Biotin deficiency complicating parenteral alimentation
T2 - Diagnosis, metabolic repercussions, and treatment
AU - Mock, Donald M.
AU - Baswell, David L.
AU - Baker, Herman
AU - Holman, Ralph T.
AU - Sweetman, Lawrence
N1 - Funding Information:
From the Departments of Pediatrics, The University of Texas Health Science Center at San Antonio, Brooke Army Medical Center, Fort Sam Houston, and the University of California, San Diego; the Department of Preventive Medicine, University of Medicine and Dentistry of New Jersey, Newark; and the Hormel Institute, Austin. Supported in part by Grant RR-O0079 from the Division of Research Resources, National Institutes of Health, and an Institutional Research Grant from The University of Texas Health Science Center at San Antonio (D.M.); by Grant HD 04608from the National Institute of Child Health and Development (L.S.); and by a Grant-in-Aid from Home Nutritional Services to the Division of Gastroenterology and Nutrition, Children's Hospital of Buffalo (D.B.). Submitted for publication April 19, 1984; accepted Sept. 28, 1984. Reprint requests: Donald M. Mock, M.D., Ph.D., Department of Pediatrics, The University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Drive, San Antonio, TX 78284.
PY - 1985/5
Y1 - 1985/5
N2 - Biotin deficiency associated with total parenteral nutrition is an emerging clinical problem; criteria for diagnosis and dosage for treatment are unclear. We have diagnosed and successfully treated biotin deficiency in three patients. Each patient had alopecia totalis, hypotonia, and developmental delay. Two developed the characteristic scaly periorificial dermatitis; one had only an intermittent scaly rash on the cheeks and occipital scalp. Zinc and essential fatty acid supplements were adequate; serum zinc levels and triene/tetraene ratios confirmed sufficiency of these nutrients. None of the patients received biotin prior to diagnosis, and each had decreased excretion of urinary biotin and increased urinary excretion of organic acids diagnostic of deficiency of two biotin-dependent enzymes (methylcrotonyl-coenzymeA carboxylase and priopionyl-coenzymeA carboxylase). Only one patient had a plasma biotin concentration below the normal range (Ochromonicas danica assay). The rash, alopecia, and neurologic findings responded dramatically to biotin therapy (100 μg/day in all patients; an initial larger dose of 1 mg/day for 1 week plus 10 mg/day for 7 weeks in one patient), and did not recur. However, abnormal organic acid excretion persisted in one patient who did not receive the larger dose. We conclude that plasma biotin concentration does not reflect biotin status in all cases and speculate that the biotin supplement currently recommended for pediatric patients (20 μg/day) may not be adequate therapy for biotin deficiency and might not even be adequate to maintain normal biotin status during TPN.
AB - Biotin deficiency associated with total parenteral nutrition is an emerging clinical problem; criteria for diagnosis and dosage for treatment are unclear. We have diagnosed and successfully treated biotin deficiency in three patients. Each patient had alopecia totalis, hypotonia, and developmental delay. Two developed the characteristic scaly periorificial dermatitis; one had only an intermittent scaly rash on the cheeks and occipital scalp. Zinc and essential fatty acid supplements were adequate; serum zinc levels and triene/tetraene ratios confirmed sufficiency of these nutrients. None of the patients received biotin prior to diagnosis, and each had decreased excretion of urinary biotin and increased urinary excretion of organic acids diagnostic of deficiency of two biotin-dependent enzymes (methylcrotonyl-coenzymeA carboxylase and priopionyl-coenzymeA carboxylase). Only one patient had a plasma biotin concentration below the normal range (Ochromonicas danica assay). The rash, alopecia, and neurologic findings responded dramatically to biotin therapy (100 μg/day in all patients; an initial larger dose of 1 mg/day for 1 week plus 10 mg/day for 7 weeks in one patient), and did not recur. However, abnormal organic acid excretion persisted in one patient who did not receive the larger dose. We conclude that plasma biotin concentration does not reflect biotin status in all cases and speculate that the biotin supplement currently recommended for pediatric patients (20 μg/day) may not be adequate therapy for biotin deficiency and might not even be adequate to maintain normal biotin status during TPN.
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U2 - 10.1016/S0022-3476(85)80350-4
DO - 10.1016/S0022-3476(85)80350-4
M3 - Article
C2 - 3923177
AN - SCOPUS:0021916384
SN - 0022-3476
VL - 106
SP - 762
EP - 769
JO - The Journal of pediatrics
JF - The Journal of pediatrics
IS - 5
ER -