PKU PHENYLKETONURIA —PREVENTABLE MENTAL RETARDATION

e [Music] birth injury holism congenital infectious diseases and metabolic diseases are the five principal causes of mental retardation which costs the public more than a billion dollars a year and afflicts 3% of the population or more than 5 million persons 1% of all mentally [ __ ] in state instit tions are PKU patients one of every 10,000 children born suffers from PKU several forms of the metabolic diseases are now known as preventable but fenel ketonia generally shortened to PKU is an area of substantial medical progress a drastic change in the expectancy of infants with this form of metal retardation has been brought Above This film report by Richard kooch MD Child Development Division Children's Hospital of Los Angeles presents case histories clinical problems and observations about PKU work at this hospital and many others throughout the country has shown that this form of mental retardation can be prevented or ameliorated here at 4 years this child is severely [ __ ] and the estimated IQ is only 11 note that he has no outward sign useful in making a diagnosis of PKU such as eczema which occurs in 20% of cases or mild seizures which occur in another 20% of cases this child has red hair and brown eyes usual clinical signs looked for are blondness and blue eyes he has no speech is not toilet trained unable to feed himself and his behavior is erratic at times he is irritable with much muscular movement and rocking he cries and grinds his teeth a good deal the odor of the urine is pronounced this child was only now brought to the attention of the clinic because an older sibling also severely Mally [ __ ] was just diagnosed as PKU the diagnosis of PKU in the older sister was therefore the major reason the younger child was brought in until recently the most common way a PKU diagnosis has occurred has been through a sibling relationship of this kind consequently the average age of diagnosis of cases has been between the second and third year and mental retardation has already progressed to a point where treatment is less effective because there was extreme delay in the diagnosis of this child the expectancy of improvement with dietary treatment is very limited PKU was first identif if IED in 1934 by Dr ashborne fing in Norway the disease is actually a defect of an enzyme in the liver which in a normal child changes the essential amino acid phenyalanine to tyrosine in PKU the failure of this change brings on metal retardation and creates at the same time an excess of fenel pyruvic acid in the urine here in this one-year-old child there is a moderate degree of mental retardation his developmental quotient by gazelle standards is 31 he appears in excellent Health has never been sick a day in his life and consequently has had little need for medical attention however the apathy obesity and marked retardation are obvious a diagnosis of hypothyroidism was suspected initially then a routine urine test showed fenel pyruvic a aage indicating PKU treatment has just started but Improvement can result even when diagnosis is made in later infancy notice the good nutritional status but obvious retardation of this 8-month old infant he is unable to roll over or sit up by himself he occasionally grasps for objects and pays attention to his environment but on the whole is very lethargic and unresponsive developmental quotient at this time is approximately 37 because metal retardation and hypotonia were present diagnosis of mongolism has been suspected The Physician caring for the child referred him to the Children's Hospital where a routine urine test revealed PKU the electroencephalogram performed at this time was abnormal the infant was started on the special diet developed for PKU patients with excellent results as shown in the following sequences after 1 year and 10 months his progress has been remarkable intelligence quotient is 87 he is now 2 and A2 years old well-nourished alert and responsive to his environment his mother has been able to manage the special diet successfully with the help of the physician nutritionist public health nurse and social worker in the Child Development Clinic assistance and supervision is given by the nutritionist at regular intervals serum phenyalanine levels in this child have been maintained between two and 10 migrs percent at all times when One Compares his development to the usual degree of mental retardation present at this age in the untreated PKU child the results are impressive early diagnosis of PKU is difficult because the infant does not present unusual clinical findings the identifying urine condition sometimes does not develop until 4 to 6 weeks after birth at this time the baby is usually at home and no examination occurs for PKU until Irreplaceable time has been lost and mental retardation has begun each infant admitted to the Children's Hospital at Los Angeles is tested as a matter of routine by a special blood test for the presence of PKU when diagnosed in the small infant home home treatment with a special diet low in the amino acid phenyalanine is effective in preventing retardation through the successful development of these special dietary programs in recent years the effects of the disease can be controlled and the child's Tendencies toward mental retardation are stopped at 2 and A2 years of age this child's ability to perceive form is still somewhat immature the performance you see is typical of the 2year year old notice though his tremendous interest in environment and normal responses to the picture book this baby was diagnosed PKU at 6 weeks by Dr Joseph gesi and the film taken through the courtesy of Dr Willard cwell the infant outwardly appears normal in all respects 5 and one half months later the infant has made excellent progress on the low phenyalanine diet serum phenyalanine levels have been maintained around 2 to 6 Mig percent the baby is interested in her environment and can sit up in a rocking position she is responsive and makes babbling sounds she can grasp a block with a nice radial digital grasp look at the object and transfer objects at 11 months her progress is excellent she now can sit up by herself bear weight and pull herself up to a sitting position she is interested in the environment about her and the proper use of the various gazelle items the Bell is picked up with a radial digital grasp at the base and The Clapper examined she sits up steadily and admires her body image placing her hand on the mirror image is characteris istic note the excellent nutritional state of this child she has used lenac a special formula as her main source of protein the phenyalanine content of this formula is low and thus she is able to eat other foods such as fruits and vegetables the lenac formula was developed and tested in the middle 1950s and is now a principal dietary in the treatment of PKU in liquid form it looks similar to milk with some difference in taste and smell it permits many variations suggested by the nutritionist which lead to easier control and effectiveness of the overall diet the child has good coordination in creeping and in pulling herself up to a standing position the neurological examination is now within normal limits and the developmental quotient is approximately 100 the electroencephalogram and the bone age are also normal she shows interest in a book and has a precise pincer grasp at 18 months further progress has been made physically intellectually and nutritionally she has good motor coordination and plays constructively with various items her serum phenyalanine levels have been maintained between 2 and 6 migs percent checked at 2 to 3 month intervals predictable good results of dietary treatment as in the case of this child are dependent upon early diagnosis early diagnosis can only be established by screening large populations of children all children coming to any Hospital should have a routine urine test for PKU especially all children seen in clinics for child mental retardation guidance neurology cerebral PSY and seizure should be checked all children coming to a Well Baby Clinic should also have the test as normal routine as well as the newly born siblings in known families by testing all baby populations we should be able to substantially reduce the number of PKU mental retardation cases that would otherwise develop to summarize the importance of early examination a child diagnosed after 3 years of age has relatively little opportunity for improvement at after 8 months of age the degree of improvement is encouraging but may be limited but in the first five weeks of Life the expectancy is excellent for complete normaly here once more is our patient who is now 3 years of age the sequence was made Available To Us by the department of visual education the hospital for sick children Toronto Canada her physical mental and nutritional status have remained good her serum phenol alanine has been well managed and she has a normal intelligence quotient successful management of the disease requires the help of the physician caring for the child and several professional disciplines the nutritionist is important in planning the actual diet the public health nurse in visiting the home and discussing the problem with parents the social worker in bringing encouragement and Aid at a time of need as these case histories show the earlier PKU is discovered the more successful the treatment there are several ways to determine if the disease is present soon after the child is born the Guthrie blood test is now widely used since it detects elevated phenyalanine level in infants blood samples before the infant leaves the hospital Nursery although children with PKU have a normal phenyalanine blood level at Birth this level rapidly increases in the first few days of life after the infant starts milk feeding when the blood samples are received at the Guthrie test Regional processing centers they are subjected to an exacting routine which accurately reveals positive samples the centers promptly and efficiently process large numbers of samples as they are received from cooperating Hospitals and Clinics other testing methods affect Ive when the infant is 3 to 6 weeks of age or older are simple tests of the child's urine fistic a chemically treated paper stick turns dark blue green after immersion in urine when fenel pyruvic acid is present in a similar urine test a 10% feric chloride solution acts as a color indicator when urine is added to the solution it is essential that urine testing be repeated in successive clinic visits if newborn blood screening is not being performed in summing up it is well to remember that treatment of PKU is accomplished by careful diet therapy and the help of a nutritionist is required the public health nurse and a social worker also play an important role in the recovery program by helping the family but above all else it it must be remembered that time is the essence it is imperative that every PKU infant be discovered quickly While most of the states in America have passed legislation making mandatory the routine testing of all infants for PKU can anyone rest so long as a single case of preventable retardation is ignored [Music] the [Music]