Summary
Phenylketonuria is a not uncommon cause of mental deficiency (there are probably 1600 cases in Great Britain alone). On the supposition that the high level of phenylalanine or its breakdown products in the blood and cerebrospinal fluid might be responsible for the mental retardation in this disorder we have treated a two year‐old child with a diet low in phenylalanine. The introduction of this diet was associated with an appreciable improvement in the patient's mental status and a fall in the level of phenylalanine in the blood and urine. When phenylalanine was again given in fairly large amounts there was an immediate and dramatic deterioration in the child's mental and biochemical condition. A similar phenylalanine intake produced no clinical reaction in a control child.
The main source of aminoacids in the diet was an acid casein hydrolysate which was specially treated to remove phenylalanine. The aim of the phenylalanine‐poor diet was to keep the phenylalanine blood level as near the normal range as possible. The preparation of such a diet presents little difficulty if a phenylalanine‐free casein hydrolysate is available. Its value in the treatment of other children is at present being investigated; it seems reasonable to assume that patients in the first two years of life will benefit most.
Seven families with X-linked mental retardation (MR) have been studied clinically and cytogenetically. All affected males in six of the families were found to have a fragile site on Xq in a number of their peripheral lymphocytes. The fragile site was not seen in any of the affected males in the seventh family. The affected males in the six families with the fragile X had a syndrome characterized by a variable degree of MR, macro-orchidism, a characteristic repetitive, jocular speech, normal body proportions, and large jaws and ears. The fragile X chromosome could only be detected in a proportion of female carriers and its frequency in females was found to be correlated with their mental status to be inversely correlated with their age.
Summary
1. A consecutive series of 787 babies born at the University Hospital were followed for 12–36 months in order to determine the prevalence of cow's milk allergy (CMA).
2. Fifty‐nine babies (7.5%) were shown by repeated challenge to have evidence of CMA.
3. The main manifestations of CMA were eczema in 27, recurrent diarrhea in 24, recurrent rhinorrhea in 18, repeated vomiting in 12, recurrent bronchitis in 10, and asthma in 7.
4. Thirty‐four babies had two or more allergic problems, e.g., had recurrent rhinorrhea and eczema, or recurrent bronchitis and recur‐rent diarrhea, 25 babies had only one.
5. Babies allergic to cow's milk were often allergic to other foods, 20% for example were allergic to soya.
6. Twenty‐five babies developed their first symptoms within 7 days of being given their cow's milk formula.
7. Seventeen of the babies lost their sensitivity to cow's milk, 10 of these babies were less than 12 months old. Thirty‐eight babies over 12 months of age when last reviewed were still allergic to cow's milk.
8. Babies with CMA, as well as those with other allergic problems, attended their doctors on account of illness more frequently than did the non‐allergic babies.
9. Allergic disorders were commonest in the parents and siblings of babies with CMA, and least common in the parents and siblings of the non‐allergic children.
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