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Histidinemia and language development: A case report
J. Communication
jPi+ 1 (1967) 51-52 o North-Holl.&d
Publ. Co., Amsterdam
WISITLDINEMIA AND LANGIJAGE DEVELOPMENT: A CASE REPORT* RAYMOND
MASSENGILL,
.
Jr. and DONALD
D. SMITH
Duke University Medical Center, Durham, N.C. A delayed-speech case was present in which the patient, a rrlale with fair skiq blonde hair .and blue eyes was given a histiciine 14sding test. The patient was about two and a half when the test was administered. The test yielded results consistent with increased histidine. The patient was not producing any consonant sounds at this age and only limited vowel sounds. At the age of three, the patient was placed on a low histidine diek After being !on the diet for a month another test was administered and the results showed no appreciable level of histidine. During the next few months the patient appeared to develop more interest in producing words and more consonant sounds are now being used. More spontaneous words were produced and his overall language development has improved. He is enrolled in a language development program and his progress has been satisfactor:‘!.
Research studies and case reports dealing with histidinemia as a factor in language development are limited. Histidinemia is an inborn error elf of metabolism thought to be transmitted as an autosomal recessive and is due to the lack of the enzyme histidase which converts histidine, a commolsl amino acid in protein, to urocanic acid (LA I&J et al. 1963). The condition is characterized by increased Ilevelsof histidine in the blood and urine as well P’S increased urinary metabolites of histidine which give a positive urine ferric chloride test. The clinical manifestations are not yet clear, but of eleve--1 cases in the literature reviewed by WOODYet al. (1965) eight have had spe& difficulties, five have had fair hair, and seven have had blue e:yes.In the present report a case is described in which histidine loading tests were used itI the diagnostic and treatment procedures with the patient. The patient was a Caucasian male, the first child of the family and the product of an uncomplicated full-term pregnancy with normal labor and delivery. The child developed normally in all respects and was a happy/, active infant. His parents were well educated and encouraged their child to s)peak. Height and weight were always in, the 50th percentile for males his ;lge. Milestones were passed at the normal times and the patient walked alone at 14 months of age. However, speech di(dnot develop and in retrospect it hi-idbeen noticed by the parents that during the first year of life the child never babble only vocalized a few vowel sounds. Comonant sounds were completely * This study was supported in part by a United Medical Research Foundation Grant. 51
RAYMOND MASSENGILL, JR. AND DONALD D. SMITH
52
absent., The child was-able to communicate his desires by pointing and often producing limited vowel sounds. The parents tried not to be indulgent ; ho.wevcr, failure to grant the child’s request or demanding verbal communication resulted in the child’s dropping the subject and going about some other activity. The child showed good comprehension, complying with recluests in a fashion consistent with a child of his age. There has been no evidence of any hearing problems. Regular well-baby checkups by pediatricians noted no abnormality, and growth and development were well within normal limits. 4t the age of two years, five months a pediatric examination showed the ch,Jd to be completely normal except for the absence of oral communication. He was observed over the next few months and when no speech developed it was felt that he should be reevaluated. Because he was a fair skinned blonde with blue eyes the question of histidinemia was raised and a urine specimen wqs chromatographed for amino acids. This yielded a large spot consistent with increased histidine. At the age of three years the patient was given a histidine loading test. This revealed elevated serum histidine levels which were not excreted at a normal rate. The same test was performed at the same time on the patient’s younger brother, then 14 months old, who also was fair, blonde and blue-eyed. He was Lund to handle the histidine load in a normal fashion. The patient was accordingly placed on a low histidine diet which is essentially low protein diet excluding all meats and cheeses as A! as nuts and other high : protein foods. The patient was allowed to have milk and eggs. After approximately a month on this diet, blood was taken again and the patient was found to have no appreciable level of histidine in the serum. During the few months prior to the time of the histidine 1oadia:gtest, it was noted that the patient made occasional consonant sounds in ad
LA I&
Be I%, R. HOWELL,
G. JACKIBY,
1. SEEGMLLLER, E. SOBER, V. ZANNONI,J. CANBY
and L. &WER, 1963, Clinical and biochemical studies on two cs~sesof histidinesnia Pediatrics 32, 216. WOOIWl+LC., c- H. SYMXR,aac’f 1. A. HARRIS,1965, Histidinemia. Amer. J. Dis. Child. 1m, 606.
jPi+ 1 (1967) 51-52 o North-Holl.&d
Publ. Co., Amsterdam
WISITLDINEMIA AND LANGIJAGE DEVELOPMENT: A CASE REPORT* RAYMOND
MASSENGILL,
.
Jr. and DONALD
D. SMITH
Duke University Medical Center, Durham, N.C. A delayed-speech case was present in which the patient, a rrlale with fair skiq blonde hair .and blue eyes was given a histiciine 14sding test. The patient was about two and a half when the test was administered. The test yielded results consistent with increased histidine. The patient was not producing any consonant sounds at this age and only limited vowel sounds. At the age of three, the patient was placed on a low histidine diek After being !on the diet for a month another test was administered and the results showed no appreciable level of histidine. During the next few months the patient appeared to develop more interest in producing words and more consonant sounds are now being used. More spontaneous words were produced and his overall language development has improved. He is enrolled in a language development program and his progress has been satisfactor:‘!.
Research studies and case reports dealing with histidinemia as a factor in language development are limited. Histidinemia is an inborn error elf of metabolism thought to be transmitted as an autosomal recessive and is due to the lack of the enzyme histidase which converts histidine, a commolsl amino acid in protein, to urocanic acid (LA I&J et al. 1963). The condition is characterized by increased Ilevelsof histidine in the blood and urine as well P’S increased urinary metabolites of histidine which give a positive urine ferric chloride test. The clinical manifestations are not yet clear, but of eleve--1 cases in the literature reviewed by WOODYet al. (1965) eight have had spe& difficulties, five have had fair hair, and seven have had blue e:yes.In the present report a case is described in which histidine loading tests were used itI the diagnostic and treatment procedures with the patient. The patient was a Caucasian male, the first child of the family and the product of an uncomplicated full-term pregnancy with normal labor and delivery. The child developed normally in all respects and was a happy/, active infant. His parents were well educated and encouraged their child to s)peak. Height and weight were always in, the 50th percentile for males his ;lge. Milestones were passed at the normal times and the patient walked alone at 14 months of age. However, speech di(dnot develop and in retrospect it hi-idbeen noticed by the parents that during the first year of life the child never babble only vocalized a few vowel sounds. Comonant sounds were completely * This study was supported in part by a United Medical Research Foundation Grant. 51
RAYMOND MASSENGILL, JR. AND DONALD D. SMITH
52
absent., The child was-able to communicate his desires by pointing and often producing limited vowel sounds. The parents tried not to be indulgent ; ho.wevcr, failure to grant the child’s request or demanding verbal communication resulted in the child’s dropping the subject and going about some other activity. The child showed good comprehension, complying with recluests in a fashion consistent with a child of his age. There has been no evidence of any hearing problems. Regular well-baby checkups by pediatricians noted no abnormality, and growth and development were well within normal limits. 4t the age of two years, five months a pediatric examination showed the ch,Jd to be completely normal except for the absence of oral communication. He was observed over the next few months and when no speech developed it was felt that he should be reevaluated. Because he was a fair skinned blonde with blue eyes the question of histidinemia was raised and a urine specimen wqs chromatographed for amino acids. This yielded a large spot consistent with increased histidine. At the age of three years the patient was given a histidine loading test. This revealed elevated serum histidine levels which were not excreted at a normal rate. The same test was performed at the same time on the patient’s younger brother, then 14 months old, who also was fair, blonde and blue-eyed. He was Lund to handle the histidine load in a normal fashion. The patient was accordingly placed on a low histidine diet which is essentially low protein diet excluding all meats and cheeses as A! as nuts and other high : protein foods. The patient was allowed to have milk and eggs. After approximately a month on this diet, blood was taken again and the patient was found to have no appreciable level of histidine in the serum. During the few months prior to the time of the histidine 1oadia:gtest, it was noted that the patient made occasional consonant sounds in ad
LA I&
Be I%, R. HOWELL,
G. JACKIBY,
1. SEEGMLLLER, E. SOBER, V. ZANNONI,J. CANBY
and L. &WER, 1963, Clinical and biochemical studies on two cs~sesof histidinesnia Pediatrics 32, 216. WOOIWl+LC., c- H. SYMXR,aac’f 1. A. HARRIS,1965, Histidinemia. Amer. J. Dis. Child. 1m, 606.