Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment

Donald M. Mock, David L. Baswell, Herman Baker, Ralph T. Holman, Lawrence Sweetman

Research output: Contribution to journalArticlepeer-review

27 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)762-769
Number of pages8
JournalThe Journal of pediatrics
Volume106
Issue number5
DOIs
StatePublished - May 1985
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment'. Together they form a unique fingerprint.

Cite this