Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups: one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed.

We studied differential urinary albumin excretion by a double one-dimensional gel electrophoresis with decyl sodium sulphate-polyacrylamide gel electrophoresis in the first, and isoelectric focusing in the second dimension in 37 diabetic children and 20 healthy subjects. In addition, total proteins, albumin, beta 2-microglobulin and molecular size distribution of urinary proteins were measured, the latter using sodium dodecyl sulphate-polyacrylamide gel electrophoresis. Whilst albuminuria was not significantly different from controls we found an increased microheterogeneity of urinary albumin in 38% of patients. In addition, low molecular weight protein (P less than 0.05) and beta 2-microglobulin excretion (P less than 0.01) were elevated. It is suggested that the appearance of highly heterogenous albumin in the pI range of 5.3-5.9 is the result of a decreased tubular reabsorption.

The physiological protien and glycoprotein excretions in the urine samples of a larger group of newborn infants were separated according to the molecular weights by SDS polyacrylamide gel electrophoresis and compared with the protein excretions of older children. We found higher proportions of albumin, of high molecular weight (MW = molecular weight greater than or equal to 150 000 dt) and of lower molecular weight (MW less than albumin 6800 dt) proteins in the first 24-h urine samples after birth. One week after birth the low molecular weight proteins predominated because there was a substantial decrease in the excretion of albumin and of high molecular weight proteins (MW greater than or equal to 150 000 dt). We compared the patterns of protein excretion of the newborn infants with those of children aged from 2 1/2 to 15 years. These urines samples showed a typical pattern of protein excretion not correlated to the age. These findings express a transitory immaturity of the glomerular filter and of the tubular protein reabsorbing system of the newborn kidney. Apparently, the tubular protein handling normalizes later than the glomerular filtration of proteins.

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