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K Virmani - One of the best experts on this subject based on the ideXlab platform.
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Long-term follow-up of 58 patients with Histidinemia treated with a histidine-restricted diet: no effect of therapy.
Pediatrics, 1994Co-Authors: K Widhalm, K VirmaniAbstract:There is no general agreement as to whether or not patients with Histidinemia should be treated with a histidine-restricted diet because the majority of the patients are asymptomatic. Between April 1969 and December 1986 124 children with Histidinemia were detected in the Austrian Neonates Screening Program and they received long-term follow-up. Fifty nine patients were treated with a histidine-restricted diet (35 mg/kg). The follow-up included determining biochemical parameters, physical examination and psychological assessment of 58 treated and 43 untreated patients. After termination of the Screening Program information about the patients' development was obtained through questionnaires and follow-up of 20 patients aged 11 to 17 years. Histidine blood levels decreased after institution of the diet, but rose again after termination of the died. In the untreated patients histidine levels were highest at 1 year of age, decreasing with age. When the IQ scores of the treated and the untreated group were compared, significantly higher IQ scores were found in the 4-year-old and 6-year-old untreated patients (P < .05). Clinical symptoms were found in 27 patients; treated and untreated patients were equally affected. The clinical observations included speech defects, psychomotor and general retardation, emotional disturbances, recurrent respiratory infections, and miscellaneous symptoms such as atopic dermatitis. We conclude that patients with Histidinemia do not benefit from dietary treatment.
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Histidinemia: a biochemical variant or a disease?
Journal of the American College of Nutrition, 1993Co-Authors: K Virmani, K WidhalmAbstract:Histidemia, first described by Ghadimi in 1961, is caused by a defect in histidase. The defect results in elevated urinary excretion of histidine and its transamination products, and in high blood histidine. Blood histidine levels in histidinemic patients range from 290 to 1420 microM (normal 70-120 microM). The clinical picture of Histidinemia varies from complete normality to severe retardation, with many patients being asymptomatic. No correlation has been found between clinical and biochemical data. Most reported cases have been identified in newborn screening programs. Frequency of Histidinemia ranges from 1 in 8000 (Japan) to 1 in 37,000 (Sweden). Histidinemia is inherited as an autosomal recessive trait. Maternal Histidinemia is believed to be benign. Studies in animal models have shown similar metabolic changes in animals and humans, but clinical changes differ. Histidinemia may be treated with a low-histidine diet, which reduces elevated histidine levels, although in most cases no improvement of clinical symptoms has been observed.
Harvey L. Levy - One of the best experts on this subject based on the ideXlab platform.
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Speech and Histidinemia: methodology and evaluation of four cases.
Developmental medicine and child neurology, 2008Co-Authors: Ira T. Lott, Julie A. Wheelden, Harvey L. LevyAbstract:SUMMARY Four unrelated children with Histidinemia (histidase deficiency) were studied specifically for characteristics of speech and language. Two of the children with normal intelligence were also normal in all aspects of speech and language. The third child, who had subnormal intelligence and emotional immaturity, had normal speech but manifested poor use of syntax on language evaluation. The remaining child, who was mentally retarded and had a moderate hearing loss, also had normal speech but had poor auditory and speech discrimination as well as poor digit recall on language testing. Speech discrimination became normal in this latter child when the intensity of the auditory stimulus was increased. A review of the literature indicated that most of the histidinemic children with speech or language abnormalities also had subnormal intelligence whereas most of the histidinemic children with normal intelligence also had normal speech and language. This information as well as the findings in the histidinemic children reported in this paper suggest that the speech and language abnormalities noted in Histidinemia are not due to a focal lesion caused by the metabolic disorder. Future cases of Histidinemia should be carefully evaluated for speech and language characteristics in relation to psychometric and audiometric results. RESUME La parole et l'histidinemie: methodologie et evaluation de quatre cas Quatre enfants avec l'histidinemie (carence d'histidase) et sans lien de parente ont eteetudies specifiquement du point de vue des caracteristiques de la parole et du langage. Deux des enfants avec intelligence normale etaient normals aussi dans tous les aspects de la parole et du langage. Le troisieme, qui etait d'une intelligence sous-normale et d'une immaturite emotive, presentait une voix normale mais un pauvre usage de la syntaxe a l'evaluation du langage. l'autre enfant, qui souffrait d'un retard mental et d'un defect auditif modere, avait aussi une voix normale mais une pauvre discrimination auditive et du langage, aussi bien qu'une pauvre meamoire digitale. La discrimination du langage chez ce dernier enfant est devenue normale des que l'intensite du stimulus a ete augmentee. Une revue de la literature a indique que la plupart des enfants histidinemiques avec des anomalies de la voix ou du langage etaient aussi d'une intelligence sous-normale, tandis que la plupart des enfants histidinemiques d'une intelligence normale presentaient une voix et un langage normales. Ces informations, aussi bien que les observations rapportees dans cette etude sur les enfants histidinemiques, suggerent que les anomalies de la parole et du langage constatees dans l'histidinemie ne sont pas dues a une lesion focale causee par le desordre metabolique. Dans les cas futurs de l'histidinemie, les caracteristiques de la parole et du langage devraient etre soigneusement evaluees par rapport aux resultats psychometriques et audiomeriques. ZUSAMMENFASSUNG Sprache und Histidinaemie: Methodik und Auswertung von vier Fallen Vier nicht verwandte Kinder mit Histidinaemie (Histidase-Mangel) wurden besonders auf ihre Spracheigenschaften untersucht. Zwei der Kinder hatten normale Intelligenz und erwiesen sich auch hinsichtlich ihrer Sprache als normal. Das dritte Kind mit subnormaler Intelligenz und emotioneller Unreife konnte normal sprechen, hatte jedoch eine schlechte Syntax. Das letzte Kind war geistig retardiert und masig schwerhorig, konnte jedoch normal sprechen, wahrend es schlecht auditorisch und sprachlich unterscheiden konnte und beim Sprachtest ein schlechtes Zahlengedachtnis aufwies. Die Klarheit der Sprache normalisierte sich bei diesem Kind, als die Intensitat des Horreizes verstarkt wurde. Bei Durchsicht der Literatur zeigte sich, das die meisten Kinder mit Histidinaemie und Sprachfehlern auch von verminderter Intelligenz waren, wahrend die meisten Kinder mit Histidinaemie und normaler Intelligenz auch ein normales Sprachvermogen aufwiesen. Diese Information sowie auch die Befunde mit histidinaemischen Kindern in diesem Bericht lassen vermuten, das die abnormen Spracheigenschaften bei der Histidinaemie nicht auf eine fokale Lasion durch die metabolische Erkrankung zuruckzufuhren sind. Zukunftige Falle von Histidinaemie sollten sorgfaltig auf ihre Spracheigenschaften in Beziehung zu psychometrischen und audiometrischen Ergebnissen untersucht werden. RESUMEN Locucion e Histidinemia: metodologia y evaluateon de cuatro casos Se estudiaron cuatro ninos no familiares con Histidinemia (deficit de histidasa), buscando especialmente las characteristicas de la locucion y el lenguaje. Dos de los ninos con inteligencia normal eran tambien normales en todos los aspectos de la locucion y el lenguaje. El tercer nino, que tenia una inteligencia subnormal y una inmadurez emocional, presentaba una locucion normal pero una utilizacion pobre de la sintaxis en la evaluation del lenguaje. El nino restante, que sufria un retraso mental y una hipoacusia moderada, tenia tambien una locucion normal pero una pobre discriminacion auditiva y del lenguaje, asi como una pobre memoria digital. En este ultimo nino la discriminacion en el lenguaje se normalizaba al aumentar la intensidad del estimulo auditive Una revision de la literatura indicaba que la mayoria de los ninos con Histidinemia con anormalidades en la locucion o el lenguaje, tenian tambien una inteligencia subnormal, mientras que la mayoria de los ninos histidinemicos con inteligencia normal tenian tambien una locucion y lenguaje normales. Esta informacion, asi como los hallazgos en los ninos histidinemicos expuestos en esta comunicacion, sugieren que las anormalidades de locucion y lenguaje apreciadas en la Histidinemia no se deben a una lesion focal causada por la alteracion metabolica. Los futuros casos de Histidinemia deben ser evaluados cuidadosamente en las characteristicas de su locucion y lenguaje, en relation con los resultados psicometricos y audiometricos.
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Robert Guthrie: The PKU Story
The American Journal of Human Genetics, 1998Co-Authors: Harvey L. LevyAbstract:One of the great stories of modern medicine is the development of routine newborn screening for phenylketonuria, better known as “PKU,” and the resulting prevention of mental retardation from this biochemical genetic disorder. For this development, thousands of families throughout the world thank Robert Guthrie. With the addition of coverage for other important disorders (notably, congenital hypothyroidism), newborn screening now has become an integral component of newborn health care. Moreover, the presymptomatic detection of metabolic disorders through newborn screening has been a powerful stimulant of research in biochemical genetics. In this book, Jean Holt Koch tells the story of Bob Guthrie and how newborn screening came to be.Reading the book called to mind a personal experience. Bob and I were in a taxi in New York, heading for a meeting. It was a long ride, ∼45 min, so there was an opportunity to discuss (what else?) newborn screening. At the time, I was involved in research into Histidinemia. I mentioned this to Bob and explained that, so far, the data strongly indicated that Histidinemia was benign. Bob only allowed himself to hear the word “Histidinemia” and then launched into a monologue about his “bug test” for histidine and the importance of adding it to newborn screening. Periodically, I was able to get in a word or two—for instance, about how the case reports of mental retardation and Histidinemia that he was mentioning might have been only coincidental occurrences and about other case reports of clinically normal children with Histidinemia— but I knew that I was outclassed by a master. In his soft, understated monotone, Bob pressed on relentlessly, convinced that there was no disorder, not one, that should not be added to newborn screening. This insistence and refusal to even allow, much less admit the possible validity of, a contrary opinion about newborn screening could be infuriating. It was not that Bob was unkind. To the contrary, he was one of the kindest and most concerned human beings I have ever known. He could not be rude if he tried. In his single-mindedness about newborn screening, shaped by his extraordinary concern for children and their right to health care and for the prevention of mental retardation, he simply was oblivious to intrusions. It was this sort of uninterrupted focus, shared by all individuals who do great things, that enabled Bob to get newborn screening adopted throughout the world.The book begins with a description of Bob's upbringing and education. His true love was microbiology, a love that continued throughout his life. He was talked into obtaining a medical degree, which he always said he never used—“the only thing his medical degree did was get his car into the doctors' parking lot at hospitals” (p. 9)—but which was, as Koch points out, essential to Bob's success. Being a physician allowed him to understand the human-disease implications of his “bug tests” and, very importantly, gave him the air of authority that was essential for influencing parent groups to lobby for PKU screening as a public-health measure.The core of the book is, of course, the newborn-screening test for PKU. It is a fascinating story, and, when reading it, I learned several facts that I had not known. One question frequently asked is whether Bob ever considered obtaining a patent and marketing the test. I knew that he never patented or sold the test and that he never made a penny from it, but I did not know that he had considered allowing the PKU test to be commercialized, as a means for widespread and efficient use of the test. Reading the short chapter “In the Lawyers' Den” is an educational experience that we all can use, especially today.Koch has performed a wonderful service in bringing to us the story of Bob Guthrie and newborn screening. As the wife of Richard Koch, who has organized and directed national and international studies of PKU, she knew Bob personally. He had stayed in their home on several occasions. She spent many hours obtaining the information for this book from Bob and from others who had known Bob or who had worked closely with him. Most importantly, she has put the story together in an interesting, informative, and memorable manner. She shows us how Bob and his wife's personal tragedy of having a mentally retarded son (who did not have PKU) put Bob on the path toward developing the so-called Guthrie test for PKU; how his intelligence, education, and curiosity about everything scientific allowed him to develop the test; and how his inheritance and upbringing gave him the persistence to insist on the test's adoption for newborn screening and the prevention of mental retardation from PKU, despite vigorous, and at times even vituperative, opposition from the medical establishment. Koch weaves these facets of Bob Guthrie's life into a fascinating and unforgettable story.This book should be required reading for anyone directly or indirectly involved in newborn screening. The book also will be informative and interesting to all geneticists, since so much of the excitement and interest in genetics began with the ability to prevent, by newborn screening, mental retardation from a genetic disease, namely, PKU. The enjoyment of reading this short book is guaranteed to be a rich return on the very modest price.
Teruo Kitagawa - One of the best experts on this subject based on the ideXlab platform.
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Newborn screening for inborn errors of metabolism in Japan. A history of the development of newborn screening.
Pediatric endocrinology reviews : PER, 2012Co-Authors: Teruo KitagawaAbstract:In 1977, the Ministry of Health and Welfare (MHW) directed prefectural officials in charge of maternal and child health to start publicly funded newborn mass-screening (NBS) for phenylketonuria (PKU), maple syrup urine disease (MSUD), Histidinemia, homocystinuria and galactosemia and a study group of MHW formulated the treatment guideline for the target diseases. In 1980, MHW launched the Japan Cooperative Project on Special Formula (JCPSF) to ensure a stable supply of special formula and also organized the committee for JCPSF. From 1977 to 2003, a study group of MHW conducted a follow-up study of the patients detected by the screening. From the follow-up it was concluded that dietary therapy was unnecessary for Histidinemia and the screening for the disease was discontinued. In 1995, the guideline for the treatment of PKU was revised to keep lower blood phenylalanine levels. The guideline committee for the treatment of BH4 deficiency was establish in 1996 to obtain better prognosis. In 2012, the MHW decided to initiate publicly funded NBS using MS/MS for inborn errors of amino acid, organic acid, and fatty acid metabolism. The Japanese nationwide NBS has been performed for 35 years. This paper reviews the Japanese history of the development of NBS which has enabled more IEM patients to lead active and productive lives today.
Virmani K - One of the best experts on this subject based on the ideXlab platform.
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Long-term follow-up of 58 patients with Histidinemia treated with a histidine-restricted diet: no effect of therapy.
Pediatrics, 1994Co-Authors: Kurt Widhalm, Virmani KAbstract:OBJECTIVE There is no general agreement as to whether or not patients with Histidinemia should be treated with a histidine-restricted diet because the majority of the patients are asymptomatic. Between April 1969 and December 1986 124 children with Histidinemia were detected in the Austrian Neonates Screening Program and they received long-term follow-up. DESIGN Fifty nine patients were treated with a histidine-restricted diet (35 mg/kg). The follow-up included determining biochemical parameters, physical examination and psychological assessment of 58 treated and 43 untreated patients. After termination of the Screening Program information about the patients' development was obtained through questionnaires and follow-up of 20 patients aged 11 to 17 years. RESULTS Histidine blood levels decreased after institution of the diet, but rose again after termination of the died. In the untreated patients histidine levels were highest at 1 year of age, decreasing with age. When the IQ scores of the treated and the untreated group were compared, significantly higher IQ scores were found in the 4-year-old and 6-year-old untreated patients (P < .05). Clinical symptoms were found in 27 patients; treated and untreated patients were equally affected. The clinical observations included speech defects, psychomotor and general retardation, emotional disturbances, recurrent respiratory infections, and miscellaneous symptoms such as atopic dermatitis. CONCLUSION We conclude that patients with Histidinemia do not benefit from dietary treatment.
K Widhalm - One of the best experts on this subject based on the ideXlab platform.
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Long-term follow-up of 58 patients with Histidinemia treated with a histidine-restricted diet: no effect of therapy.
Pediatrics, 1994Co-Authors: K Widhalm, K VirmaniAbstract:There is no general agreement as to whether or not patients with Histidinemia should be treated with a histidine-restricted diet because the majority of the patients are asymptomatic. Between April 1969 and December 1986 124 children with Histidinemia were detected in the Austrian Neonates Screening Program and they received long-term follow-up. Fifty nine patients were treated with a histidine-restricted diet (35 mg/kg). The follow-up included determining biochemical parameters, physical examination and psychological assessment of 58 treated and 43 untreated patients. After termination of the Screening Program information about the patients' development was obtained through questionnaires and follow-up of 20 patients aged 11 to 17 years. Histidine blood levels decreased after institution of the diet, but rose again after termination of the died. In the untreated patients histidine levels were highest at 1 year of age, decreasing with age. When the IQ scores of the treated and the untreated group were compared, significantly higher IQ scores were found in the 4-year-old and 6-year-old untreated patients (P < .05). Clinical symptoms were found in 27 patients; treated and untreated patients were equally affected. The clinical observations included speech defects, psychomotor and general retardation, emotional disturbances, recurrent respiratory infections, and miscellaneous symptoms such as atopic dermatitis. We conclude that patients with Histidinemia do not benefit from dietary treatment.
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Histidinemia: a biochemical variant or a disease?
Journal of the American College of Nutrition, 1993Co-Authors: K Virmani, K WidhalmAbstract:Histidemia, first described by Ghadimi in 1961, is caused by a defect in histidase. The defect results in elevated urinary excretion of histidine and its transamination products, and in high blood histidine. Blood histidine levels in histidinemic patients range from 290 to 1420 microM (normal 70-120 microM). The clinical picture of Histidinemia varies from complete normality to severe retardation, with many patients being asymptomatic. No correlation has been found between clinical and biochemical data. Most reported cases have been identified in newborn screening programs. Frequency of Histidinemia ranges from 1 in 8000 (Japan) to 1 in 37,000 (Sweden). Histidinemia is inherited as an autosomal recessive trait. Maternal Histidinemia is believed to be benign. Studies in animal models have shown similar metabolic changes in animals and humans, but clinical changes differ. Histidinemia may be treated with a low-histidine diet, which reduces elevated histidine levels, although in most cases no improvement of clinical symptoms has been observed.