Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.

Abstract excerpt

INTRODUCTION: Mitochondrial trifunctional protein (TFP) deficiency is an autosomal recessive disorder that causes a clinical spectrum of diseases ranging from severe infantile cardiomyopathy to mild chronic progressive neuromyopathy, however, parathyroid glands, hematologic system and kidney damage are not the common presentations of this disease. METHODS: We describe the clinical, biochemical and molecular...

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