Biotin Deficiency in an Adult During Home Parenteral Nutrition

Biotinidase deficiency: A novel vitamin recycling defect

“…Although the biochemical abnormalities attributed to biotinidase deficiency are often life-threatening, they appear to represent relatively late effects of the disorder. The cutaneous symptoms and some of the neurologic signs are similar to those seen in biotin deficiency states Mock et at., t981;McClain et at., 1982) and they usually occur early in the course of the disease. Biotin deficiency does not alter biotinidase activity.…”

Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

“…Individuals with biotin deficiency may also have been exposed to protracted parenteral hyperalimentation without biotin supplementation. [52][53][54][55] Fortunately, biotin is now routinely added to hyperalimentation solutions. Low serum plasma or urine is useful only in suspected cases of noncompliance where the concentrations are normal or low.…”

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

“…Although an initial diagnosis of zinc deficiency was made in each patient on the basis of characteristic appearance of the rash and, in two patients, low serum zinc concentrations, progressive zinc supplementation resulted in normal and then increased serum concentrations of zinc (TABLE 1) without improvement of the rash, alopecia, or neurologic abnormalities. Each patient also received parenteral fat emulsions a t a rate that provided adequate amounts of essential fatty acid-at least Enzymes catalyzing numbered reactions: (1 ) leucine-isoleucine transaminase; (2) branch chain 2-keto acid dehydrogenase; (3) isovaleryl-CoA dehydragenase; (4) methylcrotanyl-CoA carboxylase (MCC); ( 5 ) glycine-N-acylase; (6) enoyl hydratase (crotonase).…”