title: Hereditary lactate dehydrogenase M-subunit deficiency: lactate dehydrogenase activity in skin lesions and in hair follicles.
abstract: A 16-year-old Japanese girl had desquamating erythematosquamous lesions mostly on the extensor surface of the extremities. The lesions were worse in summer. The patient also had a mild muscle pain after strenuous exercise. Her paternal and maternal grandfathers are cousins. An analysis of lactic acid dehydrogenase (LDH) isozymes in her serum revealed a single peak of LDH1. Analysis of LDH isozymes of erythrocytes demonstrated a complete lack of LDH M-subunit in the patient and a substantial lack in the parents. The epidermis of the diseased skin and scalp hair follicles of the patient were virtually devoid of LDH activity.
authors.affiliation: Department of Dermatology, Medical College of Oita, Oitagun, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Takayasu
authors.forename: S
authors.initials: S
authors.lastname: Fujiwara
authors.forename: T
authors.initials: T
authors.lastname: Waki
mesh_terms: D000293:Adolescent; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006197:Hair / Q000201:enzymology* / Q000473:pathology; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000097:blood / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D012867:Skin / Q000201:enzymology* / Q000473:pathology; D012871:Skin Diseases / Q000201:enzymology / Q000473:pathology
chemical_list: D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase