[Studies on monilethrix].

D Lubach; N Triantos

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PubMed · 447529

[Studies on monilethrix].

D Lubach·N Triantos

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Abstract

Monilethrix is a disorder of the hair manifested by fragile, beaded hair and baldness. The four children described below showed no regulary rhythm of node and internode formation. Light microscopy supported the hypothesis that periodic inhibition of keratin synthesis explains the production of the constriction. Scanning electron microscopy shows longitudinal ridging of the internodes in monilethrix and distinctive surface irregularity. Chromatography of urine for argininosuccinic acid do not support the theory that this hair abnormality is a metabolic defect.

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Argininosuccinic Acid Child Child, Preschool Female Hair Humans Male Microscopy, Electron, Scanning Skin Diseases Case Reports English Abstract Journal Article

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D Lubach, N Triantos. 1979. [Studies on monilethrix].. https://pubmed.ncbi.nlm.nih.gov/447529/

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Proton decoupled high resolution 13C NMR spectra of argininosuccinic acid have been measured in a series of dilute water solutions of various acidity. These data have provided a basis for unequivocal determination of the presence of this metabolite in the investigated sample. The method additionally enables simultaneous rough estimation of the metabolite concentration. In order to check the practicability of the usage of this spectroscopy for diagnostic purposes, the spectra of several unprocessed urine samples have been recorded including three from patients with argininosuccinic aciduria. It has been concluded that 13C NMR spectroscopy can be a convenient method of recognising the above syndrome and probably many other inborn metabolic errors which manifest themselves with the excretion of the marker metabolite in amounts comparable to (or larger than) creatinine.

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Argininosuccinic Acid↗

PubMed1996

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Argininosuccinic Acid↗