| Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid. | |
| | |
MedLine Citation:
|
PMID: 15232704 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The term "trichothiodystrophy" (TTD) covers several autosomal recessive diseases whose diagnostic hallmark is short, brittle hair low in sulfur and cystine because of impaired synthesis of high-sulfur matrix protein. Clinical symptoms associated with TTD represent a variable range of abnormalities in organs derived from ectoderm and neuroectoderm. Important laboratory tests of the hair for the diagnosis of TTD comprise polarizing microscopy ("tiger-tail" pattern), electron microscopy, and amino acids analysis of hydrolyzed hair with a special focus on cystine. However, only very few institutions determine the amino acid composition of human hair and nail clippings, which requires special sample preparation including hydrolysis. If no special precautions are taken, quantification of cysteine and cystine becomes inaccurate because of decomposition of these residues during hydrolysis. We therefore performed the sample work-up with azide-dependent oxidation which we have for the first time adapted for analysis of hair and nail clippings. With our control and parent data resembling published data on hair and nail samples, we obtained a decreased proportion of cysteine (half cystine, determined as cysteic acid) in materials obtained from a boy with TTD. Clearly, the method for the quantification of cysteine following sodium azide-dependent oxidation is a suitable and rather convenient approach to the quantification of cyst(e)ine and other amino acids in hair and nail proteins, and is a valuable contribution to the diagnosis of TTD. |
| | |
Authors:
|
J O Sass; D Skladal; B Zelger; N Romani; B Utermann |
Related Documents
:
|
20955624 - Urine alkalization facilitates uric acid excretion. 7675324 - Allopurinol protects against manganese-induced oxidative stress in the striatum and in ... 2214614 - Acute uric acid nephropathy in two gouty patients with moderate hyperuricemia and high ... 16593064 - Gut bacteria recycle uric acid nitrogen in termites: a strategy for nutrient conservation. 16792424 - In vivo wound-healing activity of oleanolic acid derived from the acid hydrolysis of an... 17074794 - Poly-gamma-glutamate capsule-degrading enzyme treatment enhances phagocytosis and killi... |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Archives of dermatological research Volume: 296 ISSN: 0340-3696 ISO Abbreviation: Arch. Dermatol. Res. Publication Date: 2004 Sep |
Date Detail:
|
Created Date: 2005-01-26 Completed Date: 2005-02-08 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8000462 Medline TA: Arch Dermatol Res Country: Germany |
Other Details:
|
Languages: eng Pagination: 188-91 Citation Subset: IM |
Affiliation:
|
Stoffwechsellabor, Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, 79106 Freiburg, Germany. sass@kikLi.ukL.uni-freiburg.de |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Cysteic Acid
/
metabolism* Cysteine / metabolism* Genes, Recessive* Hair / metabolism*, pathology Hair Diseases / diagnosis*, genetics, metabolism*, pathology Humans Infant Male Nails / metabolism* Oxidation-Reduction / drug effects Sodium Azide / diagnostic use*, pharmacology |
| Chemical | |
Reg. No./Substance:
|
13100-82-8/Cysteic Acid; 26628-22-8/Sodium Azide; 52-90-4/Cysteine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Immunolocalization of vascular endothelial growth factor in rat condylar cartilage during postnatal ...
Next Document: Water exchange of flexible-shelled eggs and its effect on hatchling traits in the Chinese skink, Eum...