Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis.

Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency.

Three siblings with infantile-onset biotin-responsive multiple carboxylase deficiency are described. Recognition of the characteristic dermatologic manifestations, alopecia and periorificial dermatitis, should result in early diagnosis and institution of potentially lifesaving therapy with biotin. Other metabolic disorders may present a similar clinical picture. Immunologic dysfunction and/or a...

The neonatal form of biotin-responsive multiple carboxylase deficiency.

P 57: The Effect of Biotin as a Therapeutic Agent for Progressive Multiple Sclerosis

Multiple sclerosis is an autoimmune disease caused by damage to the myelin of the nerve cells in the spinal cord and brain, MS was classified into 4 types including: Relasping/remitting (RR) primary/progressive (PP), secondary/progressive (SP), progressive/relapsing (PR). PR MS is one of the severe forms of MS that lead to inflammation associated physical, mental and vision dysfunction. Because...

Acromegaly presenting with diabetic ketoacidosis.

Diabetes in acromegaly is usually non-insulin dependent and is secondary to insulin resistance caused by growth hormone excess. Diabetic ketoacidosis is a result of relative insulin deficiency and is a rare feature of acromegaly. We describe a case of acromegaly presenting with diabetic ketoacidosis. We demonstrate that growth hormone excess can cause diabetic ketoacidosis in the presence of re...

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.

Late-onset multiple carboxylase deficiency is characterized clinically by skin rash, alopecia, seizures and ataxia and occasionally by candidiasis and developmental delay. Biochemically, these individuals exhibit findings consistent with a combined deficiency of the biotin-dependent carboxylases. We have found that the activity of the enzyme biotinidase is also deficient in the sera of five aff...