Metabolic Disease Lab | The Children's Hospital of Philadelphia

Michael J. Palmieri Metabolic Disease Laboratory

Overview

The Michael J. Palmieri Metabolic Disease Laboratory is involved in the diagnosis of various biochemical genetic inherited and acquired disorders. The clinical confirmation of a diagnosis of a metabolic disease is not usually possible, and in most cases, the diagnosis is confirmed in the laboratory. The diagnosis is accomplished using specialized and sophisticated techniques that are not readily amenable to automation.

Many diagnoses, such as the organic and amino acid disorders are routinely made by the analysis of urine and plasma specimens using gas chromatography / mass spectrometry and amino acid quantitation using ultra-performance liquid chromatography respectively. Diagnostic confirmation frequently requires the use of cultured skin fibroblasts, liver or some other tissue and a range of enzymatic, molecular flux and molecular techniques. Lysosomal enzyme storage disease such as the mucolipidoses are usually diagnosed and confirmed in white blood cells. Metabolic markers for disorders of fatty acid metabolism and some of the organic acid disorders include total and free carnitine levels and an acylcarnitine profile, are measured using tandem mass spectrometry. The Metabolic disease laboratory is one of the few centers capable of diagnosing mitochondrial fatty acid oxidation disorders.

Some disorders, such as galactosemia, are initially screened on a blood spot with subsequent confirmation in red blood cells or plasma using quantitative techniques. Analysis of both lactate and pyruvate in blood is carried out on a specimen of blood, which has been pre-treated with perchloric acid. Cerebrospinal fluid, in most cases, can simply be collected and subsequently frozen without perchloric acid treatment.

Location and hours

Main Building, Room 5NW55

Hours of Operation

Monday-Friday: 8 a.m. - 4:30 p.m.

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215-590-3394