Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening

1993 ◽  
Vol 39 (9) ◽  
pp. 1904-1906 ◽  
Author(s):  
H J ten Brink ◽  
C M van den Heuvel ◽  
E Christensen ◽  
C Largillière ◽  
C Jakobs
Keyword(s):  
Neonatal Screening ◽  
Phytanic Acid ◽  
Zellweger Syndrome ◽  
Dried Blood Spots ◽  
Chondrodysplasia Punctata ◽  
Pristanic Acid ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Peroxisomal Disorders ◽  
Blood Spots ◽  
Blood Spot

Abstract Concentrations of phytanic acid and pristanic acid were measured in stored dried blood spots collected at neonatal screening from patients with peroxisomal disorders, and compared with concentrations in control blood spots. In blood spots from two patients with Zellweger syndrome both phytanic acid and pristanic acid concentrations were increased but their concentration ratio was normal. In the blood spot from a patient with rhizomelic chondrodysplasia punctata, the concentration of phytanic acid was increased, whereas pristanic acid was within the control range, resulting in a low pristanic acid/phytanic acid ratio. In the blood spot from a patient with X-linked adrenoleukodystrophy, the concentrations of the acids and their ratio were normal. These findings are consistent with results for these acids in plasma from such patients. Measurement of phytanic acid and pristanic acid and their ratios in stored dried blood collected at neonatal screening can therefore be used in the diagnosis of peroxisomal disorders, especially for those cases in which, owing to early death of the patient, no other material is available for biochemical investigations.

scholarly journals PEX6: An Imaging Overlap Between Peroxisomal and Lysosomal Storage Diseases

2020 ◽  
Vol 2 (2) ◽  
pp. 28-32
Author(s):  
César Augusto Pinheiro Ferreira Alves ◽  
Luisa Norbert Simonsen ◽  
Jonathan Rodrigues ◽  
Isabella Peixoto de Barcelos ◽  
Clarissa Bueno ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Krabbe Disease ◽  
Chondrodysplasia Punctata ◽  
Imaging Features ◽  
Peroxisome Biogenesis ◽  
Lysosomal Storage ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Peroxisomal Disorders ◽  
Pathogenic Variants ◽  
Craniofacial Dysmorphism

Peroxisomal disorders are a group of expanding genetic diseases divided into two major categories: peroxisome biogenesis defects (Zellweger spectrum disorder), and single enzymatic defects. Disorders of Peroxisome Biogenesis occur when there are biallelic pathogenic variants in any of the 13 PEX genes, which code for the peroxins, proteins required for peroxisome biogenesis. This group of disorders includes two distinct phenotypes: Rhizomelic Chondrodysplasia Punctata Type-1 and Zellweger Spectrum Disorders (ZSD), of which Zellweger syndrome is the most severe, neonatal adrenoleukodystrophy is intermediate, and infantile Refsum is the mildest. The spectrum’s most frequent defects are observed in the proteins PEX1 and PEX6, and the most common clinical presentation is Zellweger spectrum, which is often associated with craniofacial dysmorphism with neurologic abnormalities. Typically, the neuroimaging pattern shows several malformative features, including a range of cortical gyral abnormalities such as microgyria and pachygyria, and impairment of the myelination. Nevertheless, we report two siblings with peroxisomal disorder, with unexpected leukodystrophy pattern of the brain mimicking lysosomal storage disease, with classical imaging features of Krabbe disease on brain magnetic resonance image. By whole exome sequencing, we identified two pathogenic variants in compound heterozygosity in PEX6: Chr6:42.933.455 C>T (c.2435G>A), and Chr6:42.935.188 C>T (c.1802G>A). Thus, a final diagnosis of peroxisome disorder was confirmed. The index cases highlight the importance of considering peroxisome disorders as a differential diagnosis for patients with imaging features that resemble Krabbe disease.

scholarly journals Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata

2012 ◽  
Vol 53 (4) ◽  
pp. 653-663 ◽  
Author(s):  
Noriyuki Kanzawa ◽  
Nobuyuki Shimozawa ◽  
Ronald J. A. Wanders ◽  
Kazutaka Ikeda ◽  
Yoshiko Murakami ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Peroxisomal Disorders

Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata

1993 ◽  
Vol 39 (8) ◽  
pp. 1632-1637 ◽  
Author(s):  
R B Schutgens ◽  
I W Bouman ◽  
A A Nijenhuis ◽  
R J Wanders ◽  
M E Frumau
Keyword(s):  
Fatty Acids ◽  
Blood Cells ◽  
Zellweger Syndrome ◽  
Syndrome X ◽  
Chondrodysplasia Punctata ◽  
Long Chain Fatty Acids ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Peroxisomal Disorders ◽  
Long Chain ◽  
Chain Fatty Acids

Abstract Profiles of saturated very-long-chain (> C22) fatty acids were studied in plasma, fibroblasts, erythrocytes, platelets, and leukocytes of patients affected by peroxisomal disorders such as Zellweger syndrome, X-linked adrenoleukodystrophy (X-ALD), and classic rhizomelic chondrodysplasia punctata (RCDP) and in controls. In Zellweger patients, the concentration of hexacosanoic acid (C26:0) and the C26:0/C22:0 ratio are greatly increased in plasma and fibroblasts. However, the plasma concentration of docosanoic acid (C22:0) is greatly decreased. Also in platelets, leukocytes, and to a lesser extent erythrocytes, the C26:0 concentrations and both the C26:0/C22:0 and C24:0/C22:0 ratios are greatly increased. The C24:0/C22:0 ratio is significantly increased in plasma, platelets, and leukocytes, but not in erythrocytes. In X-ALD, the C26:0 concentration and the C26:0/C22:0 and C24:0/C22:0 ratios are significantly increased in plasma, fibroblasts, platelets, and leukocytes, but the erythrocytes show substantial overlap in the 5-90% ranges between controls and patients. In RCDP, slightly increased C26:0 and C26:0/C22:0 ratios are found in erythrocytes, platelets, and leukocytes, but not in plasma and fibroblasts. We conclude that plasma and fibroblasts are the specimens of choice for biochemical diagnosis of Zellweger syndrome and X-ALD, respectively. The slight increase in C26:0 in blood cells of RCDP patients suggests a decreased flux of very-long-chain fatty acids through the peroxisomal beta-oxidation pathway in liver in this genetic disorder.

Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots

1981 ◽  
Vol 113 (2) ◽  
pp. 111-121 ◽  
Author(s):  
Jeanette R. Crossley ◽  
Patricia A. Smith ◽  
Brian W. Edgar ◽  
Peter D. Gluckman ◽  
Robert B. Elliott
Keyword(s):  
Cystic Fibrosis ◽  
Neonatal Screening ◽  
Dried Blood Spots ◽  
Immunoreactive Trypsin ◽  
Blood Spots

scholarly journals Development and validation of a LC-MS/MS method for ivermectin quantification in dried blood spots: application to a pharmacokinetic study inTrichuris trichiura-infected adults

2018 ◽  
Vol 10 (24) ◽  
pp. 2901-2909 ◽  
Author(s):  
Jessica D. Schulz ◽  
Anna Neodo ◽  
Jean T. Coulibaly ◽  
Jennifer Keiser
Keyword(s):  
Pharmacokinetic Study ◽  
Dried Blood Spots ◽  
Trichuris Trichiura ◽  
Dried Blood Spot ◽  
Plasma Samples ◽  
Blood Spots ◽  
Development And Validation ◽  
Blood Spot

Ivermectin was quantified in dried blood spot and plasma samples derived fromTrichuris trichiura-infected adults with a validated LC-MS/MS method.

Measurement of gonadotropins in dried blood spots

1994 ◽  
Vol 40 (3) ◽  
pp. 448-453 ◽  
Author(s):  
C M Worthman ◽  
J F Stallings
Keyword(s):  
Luteinizing Hormone ◽  
Filter Paper ◽  
Clinical Studies ◽  
Follicle Stimulating Hormone ◽  
Dried Blood Spots ◽  
Blood Spots ◽  
Low Concentrations ◽  
Serial Sampling ◽  
Highly Correlated ◽  
Blood Spot

Abstract We describe direct immunofluorometric assays for luteinizing hormone (hLH) and follicle-stimulating hormone (hFSH) in fingerstick blood spots dried on filter paper, based on modifications of commercially available kits. Determinations are made from 2.5-mm-diameter discs (3 microL of dried blood) punched out from blood spot standards and samples. Sample dose detection limits of the assays (IU/L) are 0.26 for LH and 0.13 for FSH, with mean interassay CVs of 11.6% (LH) and 7.8% (FSH) at low concentrations. Analytical recoveries of added hormone averaged 100% for LH and 95% for FSH. Clinical studies showed that values for blood spots (x) and directly assayed plasma (y) are highly correlated, so that results from blood spots can be converted directly to plasma equivalents, as follows: yLH = 0.07 + 1.90 xLH, and yFSH = 0.424 + 2.207 xFSH. These gonadotropins are stable in blood spots for at least a year under refrigeration; LH for at least 8 weeks and FSH 6 weeks at 22 degrees C; and both hormones for a week at 37 degrees C. These methods thus allow self-sampling, serial sampling, and mailing of specimens.

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