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Phenylketonuria in a Negro infant
Volume 67 Number 2
Brief clinical and laboratory observations
329
Pbenylketonuria in a Negro infant Herbert A. N e w m a n , M.D.,* a n d L e r o y Engel, M . D . WHITE
PLAINS~
A L T H O U G I-I
N. Y.
classically a s s o c i a t e d
with
the
C a u c a s i a n race, p h e n y l k e t o n u r i a has been described in a child of m i x e d I n d i a n - N e g r o Caucasian ancestry, a Negro Brazilian, a m u l a t t o , Sudanese siblings, and, most recently, in an A m e r i c a n N e g r o w i t h a history of C a u c a s i a n a d m i x t u r e . : T h e l a t t e r report, by K a t z a n d Menkes, in a d d i t i o n to reviewing the a b o v e - m e n t i o n e d documents, notes the existence of an u n p u b l i s h e d case of p h e n y l k e t o n u r i a o c c u r r i n g in a N e g r o infant. This child is also m e n t i o n e d by G u t h r i e a n d W h i t n e y as Case No. 30 in their r e p o r t of p h e n y l a l a n i n e screening in 400,000 i n f a n t s ? T h e present c o m m u n i c a t i o n is an amplification of the r e p o r t m e n t i o n e d by K a t z a n d Guthrie. CASE R E P O R T W. S., a Negro infant, was first seen for a routine well-baby examination at 11 days of age. A urine test with both Phenistix and ferric chloride was noted to be strongly positive for phenylketonuria. The baby was the product of a normal fullterm pregnancy and an uneventful delivery. His parents are medium-dark skinned American Negroes. The infant's maternal great-grandfather was an American Indian from North Carolina (probably a Cherokee). The maternal grandmother has stated that three generations back on her mother's side, there was a marriage to a totally white person. The child's mother has 6 siblings, all alive and well. The father's 3 siblings are also in good health. A maternal uncle is said to have died at the age of 52 during an epileptic seizure. The remainder of the family history is unremarkable.
From The Adoption Service of Westchester, White Plains. **Address, 14 Sound:,iew Avenue, White Plains, New York.
The patient was born on Sept. 9, 1963. He was started on an evaporated milk formula at 1 day of age. On Sept. 13, 1963, a routine blood test for phenylalanine was taken for screening with the inhibition assay method by the New York City Department of Health. This result was, subsequently, reported as being greater than 20 rag. per cent. Physical examination at 11 days of age was quite unremarkable. The infant was well developed and well nourished. The skin was noted to be lighter in color than that of either parent. The hair was black and eyes were dark. There was no eczema. Examination of the heart, lungs, abdomen, and genitals was unremarkable. Neurologic examination failed to demonstrate any abnormalities. Because of the positive urine test for phenylketones, blood was obtained for serum phenylalanine determination, and the baby was given a low phenylalanine formula (Lofenalac). The serum phenylalanine level was found to be 55 mg. per 100 ml. (La Du method). The diagnosis of phenylketonuria thus having been established, the child was referred to Grasslands Hospital, and, subsequently, to New York University, for control of his diet. COMMENT P h e n y l k e t o n u r i a is a h e r e d i t a r y disorder of a m i n o acid metabolism, due to deficiency of the h e p a t i c enzyme p h e n y l a l a n i n e hydroxylase, which converts p h e n y l a l a n i n e to tyrosine. Clinically, it is characterized by progressive m e n t a l deficiency, various neurologic disturbances, a n d alterations in pigmentation. I t has been estimated that, due to failure of f o r m a t i o n of m e l a n i n pigments, 90 per cent of p h e n y l k e t o n u r i c children are blue-eyed blondes with fair skins? However, as the above r e p o r t indicates, the disease can occur in N e g r o as well as white children. Since the degree of m e n t a l r e t a r d a t i o n is
330
August 1965
Brie[ clinical and laboratory observations
closely related to the rapidity of diagnosis and dietary control, it is important that all children, regardless of color or racial background, be tested early in life for evidence of phenylketcnuria. SUMMARY A case of phenylketonuria in an American Negro infant is reported. The importance of routine testing for phenylketonuria in all newborn children is emphasized.
Margaret K. Gatz in obtaining the family geneology. REFERENCES 1. Guthrie, R., and Whitney, S.: Phenylketonuria detection in the newborn infant as a routine hospital procedure, Children's Bureau Publication No. 419, 1964. 2. Katz, H., and Menkes, J.: Phenylketonuria occurring in an American Negro, J. PEmAT. 65: 71, 1964. 3. Nelson, W. E.: Textbook of pediatrics, Philadelphia, 1959, W. B. Saunders Company, p. 261.
We wish to acknowledge the assistance of Mrs.
The veloepiglottic sphincter and obligate. Nose breathing in the neonate Melvin L. Moss, D.D.S., Ph.D.* NEW
YORK,
N. Y.
THE O R O P H A R Y N G E A L gateway in man is formed by a dynamic valving between the soft palate (velum) and the dorsum of the mobile portion of the muscular tongue, the velolingual sphincter. This structure is unique in man. It comes into being during the first two years of life. At birth, man possesses a typically mammalian valve at this site, formed by the velum and the semirigid tip of the cartilaginous epiglottis, the veloepiglottic sphincter. Associated anatomical concomitants are: ( 1 ) the complete intraoral horizontal position of the tongue, and (2) the relatively elevated position of the cervical viscera, as indicated From the Department o[ Anatomy, College of Physicians and Surgeons, Columbia University. Aided, in part, by Grant NB-00965, National Institute of Neurological Diseases and Blindness, National Institutes of Health. *Address: College o/ Physicians and Surgeons, Columbia University, 630 West t68th St., New York, N.Y. 10032
Fig. 1. Sagittal section through the head of a newborn infant. Note the approximation of the tip of the uvula and the epiglottis. by the hyoid bone and laryngeal cartilages being at the level of the mandibular symphysis (Fig. 1). Postnatal growth changes include the relative descent of the cervical viscera. As a
Brief clinical and laboratory observations
329
Pbenylketonuria in a Negro infant Herbert A. N e w m a n , M.D.,* a n d L e r o y Engel, M . D . WHITE
PLAINS~
A L T H O U G I-I
N. Y.
classically a s s o c i a t e d
with
the
C a u c a s i a n race, p h e n y l k e t o n u r i a has been described in a child of m i x e d I n d i a n - N e g r o Caucasian ancestry, a Negro Brazilian, a m u l a t t o , Sudanese siblings, and, most recently, in an A m e r i c a n N e g r o w i t h a history of C a u c a s i a n a d m i x t u r e . : T h e l a t t e r report, by K a t z a n d Menkes, in a d d i t i o n to reviewing the a b o v e - m e n t i o n e d documents, notes the existence of an u n p u b l i s h e d case of p h e n y l k e t o n u r i a o c c u r r i n g in a N e g r o infant. This child is also m e n t i o n e d by G u t h r i e a n d W h i t n e y as Case No. 30 in their r e p o r t of p h e n y l a l a n i n e screening in 400,000 i n f a n t s ? T h e present c o m m u n i c a t i o n is an amplification of the r e p o r t m e n t i o n e d by K a t z a n d Guthrie. CASE R E P O R T W. S., a Negro infant, was first seen for a routine well-baby examination at 11 days of age. A urine test with both Phenistix and ferric chloride was noted to be strongly positive for phenylketonuria. The baby was the product of a normal fullterm pregnancy and an uneventful delivery. His parents are medium-dark skinned American Negroes. The infant's maternal great-grandfather was an American Indian from North Carolina (probably a Cherokee). The maternal grandmother has stated that three generations back on her mother's side, there was a marriage to a totally white person. The child's mother has 6 siblings, all alive and well. The father's 3 siblings are also in good health. A maternal uncle is said to have died at the age of 52 during an epileptic seizure. The remainder of the family history is unremarkable.
From The Adoption Service of Westchester, White Plains. **Address, 14 Sound:,iew Avenue, White Plains, New York.
The patient was born on Sept. 9, 1963. He was started on an evaporated milk formula at 1 day of age. On Sept. 13, 1963, a routine blood test for phenylalanine was taken for screening with the inhibition assay method by the New York City Department of Health. This result was, subsequently, reported as being greater than 20 rag. per cent. Physical examination at 11 days of age was quite unremarkable. The infant was well developed and well nourished. The skin was noted to be lighter in color than that of either parent. The hair was black and eyes were dark. There was no eczema. Examination of the heart, lungs, abdomen, and genitals was unremarkable. Neurologic examination failed to demonstrate any abnormalities. Because of the positive urine test for phenylketones, blood was obtained for serum phenylalanine determination, and the baby was given a low phenylalanine formula (Lofenalac). The serum phenylalanine level was found to be 55 mg. per 100 ml. (La Du method). The diagnosis of phenylketonuria thus having been established, the child was referred to Grasslands Hospital, and, subsequently, to New York University, for control of his diet. COMMENT P h e n y l k e t o n u r i a is a h e r e d i t a r y disorder of a m i n o acid metabolism, due to deficiency of the h e p a t i c enzyme p h e n y l a l a n i n e hydroxylase, which converts p h e n y l a l a n i n e to tyrosine. Clinically, it is characterized by progressive m e n t a l deficiency, various neurologic disturbances, a n d alterations in pigmentation. I t has been estimated that, due to failure of f o r m a t i o n of m e l a n i n pigments, 90 per cent of p h e n y l k e t o n u r i c children are blue-eyed blondes with fair skins? However, as the above r e p o r t indicates, the disease can occur in N e g r o as well as white children. Since the degree of m e n t a l r e t a r d a t i o n is
330
August 1965
Brie[ clinical and laboratory observations
closely related to the rapidity of diagnosis and dietary control, it is important that all children, regardless of color or racial background, be tested early in life for evidence of phenylketcnuria. SUMMARY A case of phenylketonuria in an American Negro infant is reported. The importance of routine testing for phenylketonuria in all newborn children is emphasized.
Margaret K. Gatz in obtaining the family geneology. REFERENCES 1. Guthrie, R., and Whitney, S.: Phenylketonuria detection in the newborn infant as a routine hospital procedure, Children's Bureau Publication No. 419, 1964. 2. Katz, H., and Menkes, J.: Phenylketonuria occurring in an American Negro, J. PEmAT. 65: 71, 1964. 3. Nelson, W. E.: Textbook of pediatrics, Philadelphia, 1959, W. B. Saunders Company, p. 261.
We wish to acknowledge the assistance of Mrs.
The veloepiglottic sphincter and obligate. Nose breathing in the neonate Melvin L. Moss, D.D.S., Ph.D.* NEW
YORK,
N. Y.
THE O R O P H A R Y N G E A L gateway in man is formed by a dynamic valving between the soft palate (velum) and the dorsum of the mobile portion of the muscular tongue, the velolingual sphincter. This structure is unique in man. It comes into being during the first two years of life. At birth, man possesses a typically mammalian valve at this site, formed by the velum and the semirigid tip of the cartilaginous epiglottis, the veloepiglottic sphincter. Associated anatomical concomitants are: ( 1 ) the complete intraoral horizontal position of the tongue, and (2) the relatively elevated position of the cervical viscera, as indicated From the Department o[ Anatomy, College of Physicians and Surgeons, Columbia University. Aided, in part, by Grant NB-00965, National Institute of Neurological Diseases and Blindness, National Institutes of Health. *Address: College o/ Physicians and Surgeons, Columbia University, 630 West t68th St., New York, N.Y. 10032
Fig. 1. Sagittal section through the head of a newborn infant. Note the approximation of the tip of the uvula and the epiglottis. by the hyoid bone and laryngeal cartilages being at the level of the mandibular symphysis (Fig. 1). Postnatal growth changes include the relative descent of the cervical viscera. As a