Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency.
We have observed that the fragile hair of two untreated patients with argininosuccinic aciduria showed abnormal alternating zones of bright and dark banding by polarizing microscopy. Scanning electron microscopy documented discontinuous grooves with a 50 to 100 microns periodicity. Results of amino acid analysis of the hair were essentially normal. After the patients were treated with a low-protein, arginine-supplemented diet, the hair assumed a normal appearance. Five patients already treated with diet showed no hair abnormalities. The pathogenesis of the hair changes in unknown, but our findings suggest that products generated in the disease can adversely affect metabolically active tissue such as hair.
Kvedar
J C
JC
Harvard Medical School, Department of Dermatology, Boston, MA.
Baden
H P
HP
Baden
L A
LA
Shih
V E
VE
Kolodny
E H
EH
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy*; D000596:Amino Acids / Q000032:analysis; D001123:Argininosuccinate Lyase / Q000097:blood; D001125:Argininosuccinic Acid / Q000097:blood / Q000652:urine; D056807:Argininosuccinic Aciduria; D002675:Child, Preschool; D005808:Genes, Recessive / Q000235:genetics; D006197:Hair / Q000002:abnormalities* / Q000737:chemistry / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D008859:Microscopy, Polarization
D000596:Amino Acids; D001125:Argininosuccinic Acid; D001123:Argininosuccinate Lyase