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Biomedical subjects

V V Michels

Publications and source records attributed to V V Michels.

5 recordsLinked to original sources
PubMed1978

Arginase deficiency in multiple tissues in argininemia.

A 5 9/12-year-old Mexican female with argininemia presented at 4 years of age with severe growth retardation, microcephaly, mental retardation, loss of ability to walk, spasticity and epileptiform electroencephalogram. At follow-up, blood ammonia was elevated only twice out of 30 determinations. Blood arginine was 544 to 1,074 mumol/l (normal 61 to 173); cerebrospinal fluid arginine was 88 mumol/l (normal 6 to 29); and urinary arginine, citruline and argininosuccinic acid were consistently elevated. Arginase activities in tissues from the propositus were 0.01 mU/mg hemoglobin in erythrocytes (normal 29.8 to 96.1); 9 mU/mg protein in liver (normal 1,522 to 5,491); and 5 mU/mg protein in stratum corneum (normal 2,856 to 7,556). The demonstration of arginase deficiency in liver and stratum corneum suggests a generalized deficiency and helps to explain the elevation of blood arginine. Therapeutic trials of orally administered lysine to enhance dibasic amino acid competition and of enzyme replacement using erythrocyte transfusion did not result in significantly decreased blood arginine or clinical improvement.

Abnormalities, Multiple↗
PubMedDate not supplied

Müllerian aplasia with hypoplastic thumbs: Two case reports.

Two cases of Müllerian aplasia associated with unilateral hypoplasia of the thumbs and skeletal spine deformities in two unrelated females are reported, and the pertinent literature is reviewed. Müllerian aplasia is frequently associated with skeletal spine deformities, but has not been reported to be associated with hypoplasia of the thumbs. Several heritable syndromes, including the hand-foot-uterus syndrome, are characterized by uterovaginal and distal extremity malformations but are not associated with skeletal spine anomalies. The two cases reported here represent a previously unreported constellation of anomalies.

Abnormalities, Multiple↗