MAPLE SUGAR URINE DISEASE

A rare disorder affecting amino acid metabolism shortly after birth, and leading to mental retardation. It is believed to be due to a single recessive gene. The name was suggested by the characteristic maple-syrup odor of the urine, which shows excessive secretion of some amino acids (valine, leucine, isoleucine) and deficiency of others. Within the first few weeks of life the infant appears spastic, loses the Moro reflex (a massive “embracing” reaction to a sudden stimulus), and suffers progressive deterioration of the brain. Until recently it was taken for granted that the child would die within a few months, but some promising experiments with diets low in certain keto and amino acids have been conducted. See mental retardation (causes).MARASMUS. A gradual wasting or withering of tissues. The term is used in psychology to denote the physical effects of emotional deprivation.Infants raised in cold, impersonal institutions and in homes ridden with tension and anxiety tend to become withdrawn and lethargic, and in extreme cases literally waste away. As late as 1919, about one half of the mortality among institutionalized infants under one year was attributed to marasmus. These children usually received adequate physical care, but were deprived of “mothering” and failed to receive warm, personal attention. They were also deprived of the psychological and physical stimulation which children receive in normal family life. As a result they became apathetic and depressed, had little interest in food, and showed diminished muscle tonus and reflex responses. Some of these children developed severe cases of marasmus.In recent years efforts have been made to introduce more personal and individual care into institutions so that all the children would be provided with the affection and stimulation they need. Although the emotional and psychological climate varies greatly from institution to institution even today, the extreme reaction known as marasmus is believed to occur only rarely. See maternal DEPRIVATION, MOTHERING.Dlustrative Case: marasmus Alan Scott weighed nearly eight pounds at birth. On admission, at five and a half months, he weighed ten pounds. At three months, Alan had developed loose, foul stools, continuing for ten weeks and accompanied by vomiting. During this time, he lost two pounds, and he was urgently referred to us by the local pediatrician. Alan was a severely marasmic infant who showed no overt reaction to external stimulation, mouthed his fingers, and made chewing m otions with his mouth. He did not make eye contact with persons or objects; when he was tooweak to move his head, he rolled his eyes away.Intensive tests for intestinal or other abnormalities that might be causing his diarrhea did not yield any explanation for Alan’s symptoms. No pattern could be found in Alan’s feeding, vomiting, or comfort responses, and his life was severely threatened. He was initially maintained by intensive intravenous, caloric, and nutritional supplementation as well as oral feeding. During the first three weeks of hospitalization, his weight remained the same. In the next three weeks, though, there was a slow but definite growth to eleven pounds four ounces.On Alan’s admission, Mr. Scott was and had been away for some weeks serving in the National Guard. Mrs. Scott had been entirely unprepared for the bereavement she felt when her husband left. She cried as she had when her childhood home dissolved because her father developed tuberculosis. When she was so bereaved, Alan turned his eyes away from her, stopped smiling, and “refused” to eat and gain weight, thus defeating her plan to prove herself a good mother by fattening him up while Mr. Scott was away.Attempts to get help from her mother had ended when her mother told her, “I have nothing to give you. They raise children differently today.” Her mother-in-law had said, “I raised mine. I can’t see why you can’t raise yours.” Even before he went away, her husband had been spending many nights with the “boys.” Finally, she had depended completely on Alan for proving she was good. He, too, had failed her, and now seemed about to desert her fully— in death. When her pediatrician had said there was nothing wrong with Alan, she made the inevitable inference that she was Alan’s trouble.Mrs. Scott’s interviews with the social worker were full of bitter, angry denunciation of all the people who could have helped and “wouldn’t,” and of increasing spitefulness to her husband for being undependable in the past months. She wanted to be a good wife and mother and, clearly, she had not thought that her failure was in any way her own responsibility. She had conflicting attitudes that made her want to master and to escape the tasks of motherhood.A crisis occurred in the hospital ward when Alan vomited while Mrs. Scott was feeding him. She tried to corner and ensnare us all into criticizing and blaming her. She tried the ward nurse, the pediatrician, and the social worker, but the team held firm. We told her that none of us knew why he vomited; he also vomited when the nurse fed him. Then we asked her to help us find out when and why he did this.One time, Mrs. Scott fed Alan while her mother-in-law was there. He vomited. She realized she had been concerned with her mother-in-law instead of Alan. For the first time, she told her mother-in-law to keep her anxious criticisms to herself, especially since her mother-in-law had refused her previous request for help.Shortly thereafter she told us that Alan was taking her in with his eyes. Soon, the nurses could feed him the milk for a while; things were going to be all right. Her cue reading of Alan’s needs appeared spontaneously. She stopped poking him and pushing him, and she moderated her over- stimulating demands for his attention. When she looked at him, she smiled. Both Mr. and Mrs. Scott spoke of lifelong lack of confidence. Mr. Scott felt like a boy; at sixteen, he had had to assume responsibility for running the farm when his father went to a state hospital. Mr. Scott wanted to be proud of his wife and son, but things had been too tense. His main status in life came from the National Guard, but even there he feared promotion, lest his men sense his lack of confidence and, therefore, despise him. Mr. Scott refused to see anything hard or unpleasant, and he was shocked when Mrs. Scott told him how she had felt during and since her pregnancy. He was also pleased, though, because to him, her anger was a measure of his importance. (Barbero et al., 1963)