Cerebrohepatorenal Syndrome (CHRS) of Zellweger: lysosomal enzyme activities, sulfation of glycosaminoglycans, and pipecolic acid levels in cultured skin fibroblasts

Thesis/Dissertation · Tue Jan 01 04:00:00 EST 1985

OSTI ID:5941210

Johnson, E C.P.

The defect in the cerebrohepatorenal syndrome (CHRS), a fatal hereditary disorder primarily affecting neurological development, is unknown. Three areas were studied for specific biochemical abnormalities which might aid in diagnosis and understanding of the disorder: (1) Clinico-pathological similarities to inherited degenerative neurologic disorders suggested decreased activity of certain lysosomal enzymes. Assays of ..beta..-galactosidase, ..beta..-hexosaminidase, ..cap alpha..-mannosidase, and arylsulfatase A activities in fibroblasts from four infants with CHRS indicated no deficiency of enzyme activities. (2) Undersulfation of glycosaminoglycans (GAGs) has been reported in patients with the clinically similar Lowe's syndrome. The rate and amount of incorporation of /sup 35/SO/sub 4/ = into intracellular /sup 35/S-GAGs up to 48 hours was comparable in fibroblasts from six CHRS infants and controls. Loss of /sup 35/-GAGs also followed a normal pattern. (3) Because pipecolic acid (PA) has been reported to be elevated in body fluids of patients with CHRS, cultured skin fibroblasts were examined for such an abnormality. Lysosomal enzyme activities and metabolism of sulfated glycosaminoglycans appear to be normal in cultured skin fibroblasts from infants with CHRS. Despite the sensitivity of the method, examination of pipecolic acid in cultured skin fibroblasts does not seem to be useful for diagnosis of CHRS.

• Research Organization: Alabama Univ., Birmingham (USA)
• OSTI ID: 5941210
• Country of Publication: United States
• Language: English

Related Subjects

550301 -- Cytology-- Tracer Techniques
550601* -- Medicine-- Unsealed Radionuclides in Diagnostics
59 BASIC BIOLOGICAL SCIENCES
62 RADIOLOGY AND NUCLEAR MEDICINE
ANIMAL CELLS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BIOCHEMISTRY
CARBOHYDRATES
CELL CONSTITUENTS
CHEMISTRY
CONNECTIVE TISSUE CELLS
DAYS LIVING RADIOISOTOPES
DIAGNOSIS
DISEASES
ENZYME ACTIVITY
EVEN-ODD NUCLEI
FIBROBLASTS
GLUCOPROTEINS
HEREDITARY DISEASES
ISOTOPES
LIGHT NUCLEI
LYSOSOMES
NERVOUS SYSTEM
NUCLEI
ONTOGENESIS
ORGANIC COMPOUNDS
ORGANOIDS
OXYGEN COMPOUNDS
PROTEINS
RADIOISOTOPES
SACCHARIDES
SOMATIC CELLS
SULFATES
SULFUR 35
SULFUR COMPOUNDS
SULFUR ISOTOPES