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Biomedical subjects

S V Phansalkar

Publications and source records attributed to S V Phansalkar.

8 recordsLinked to original sources
PubMed1977

Argininemia.

The clinical features of argininemia in two cousins included hyperactivity, spasticity, ataxia, retardation, and repeated attacks of hyperammonemia. Study of a large kindred suggests that arginase-deficiency is transmitted as a Mendelian recessive. Treatment with an essential amino acid mixture with the total nitrogen intake limited to the requirement, controlled the hyperammonemia, reduced the plasma arginine level, and permitted a marked clinical improvement. There has been a significant increase in intelligence levels; the previously retarded children are now approaching the normal range of function.

Amino Acid Metabolism, Inborn Errors↗
PubMed1975

Cystine deficiency during dietotherapy of homocystinemia.

Cystine deficiency was inadvertently produced in a boy receiving specific dietary therapy for homocystinuria. This was manifested as a loss in weight, the reappearance of significant amounts of homocystine in the plasma and urine, and the elevation of the plasma methionine level. In addition, there was a significant reduction in the level of cystine in the plasma. This reduction in plasma cystine level differentiates cystine deficiency from loss of biochemical control due to failure to keep the prescribed diet. The addition of cystine to the regime of this child, without any other dietary modification, resulted in a complete remission.

Body Weight↗
PubMed1975

The therapy of hyperammonemia due to ornithine transcarbamylase defiency in a male neonate.

Ornithine transcarbamylase deficiency in the male neonate has been considered to be invariably fatal because of the severity of the hyperammonemia. An extreme degree of hyperammonemia in a male neonate was brought under control by a series of exchange transfusions, prolonged peritoneal dialysis, adequate caloric intake, and a mixture of essential amino acids with an excess of aspartic acid and arginine. After the initial phase, it was possible to maintain the plasma ammonia level with dietary therapy alone, in spite of a number of complications that might be expected to cause tissue damage and increase the hyperammonemia.

Amino Acids↗