RESUMEN
PURPOSE: Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI). The unique pathophysiology of classic galactosemia, with a severely reduced follicle pool at an early age, requires a new therapeutic approach. This study evaluated the effect of dehydroepiandrosterone (DHEA) on ovarian tissue in a galactose-induced POI rat model. METHODS: Pregnant rats were fed with either a normal or a 35% galactose-containing diet from day 3 of conception continuing through weaning of the litters. Galactose-exposed female offspring were further divided into 5 groups on PND21. The first group received no application. Treatment groups were fed orally by gavage once daily with sesame oil (group 2), or DHEA at doses of 0.1 mg/kg (group 3), 1 mg/kg (group 4) or 10 mg/kg (group 5) until PND70. Fertility rates of mothers with galactosemia, body weights (BWs), and ovarian weights of the litters from PND21 to PND70 were recorded. Ovarian follicle count, immunohistochemistry for proliferation and apoptosis marker expressions and TUNEL for cell death assessment were performed in offspring ovaries. RESULTS: Decreased fertility, ovarian/body weights were observed under galactosemic conditions, together with decreased follicle number and increased atresia. Improved postnatal development, primordial follicle recruitment and follicular growth were observed after DHEA treatment. After DHEA treatment, the expression of Ki67 protein was found to be increased; elevated expression of cleaved-caspase-3 under galactosemia was found to be reduced. CONCLUSIONS: Our data suggests that DHEA treatment may be a potentially useful clinical therapy to improve ovarian ageing in women with POI-induced by galactosemia.
Asunto(s)
Envejecimiento/efectos de los fármacos , Deshidroepiandrosterona/farmacología , Galactosemias/dietoterapia , Insuficiencia Ovárica Primaria/dietoterapia , Envejecimiento/genética , Animales , Suplementos Dietéticos , Modelos Animales de Enfermedad , Femenino , Galactosa/toxicidad , Galactosemias/inducido químicamente , Galactosemias/complicaciones , Galactosemias/patología , Humanos , Folículo Ovárico/efectos de los fármacos , Folículo Ovárico/patología , Embarazo , Insuficiencia Ovárica Primaria/inducido químicamente , Insuficiencia Ovárica Primaria/patología , RatasRESUMEN
Breastfeeding replacement is the only treatment for galactosemia (GAL) and phenylketonuria (PKU) during infancy. We aimed to evaluate the stress degree in mothers who were obliged to replace breastfeeding with special formulas as the only treatment for the diseased newborns. Thirty-two mothers with GAL newborns, 19 on breastfeeding only and 13 on breastfeeding plus formula, participated in this study. Additionally, 54 mothers with PKU infants, 32 offered breastfeeding only and 22 breastfeeding plus formula, participated in the study. Stress degree was evaluated in both groups: GAL and PKU. Mothers on breastfeeding only experienced the highest degree of stress than those who were on breastfeeding plus formula. After 1 month of psychological support, most mothers were ameliorated: mothers on breastfeeding only felt better as compared to those on breastfeeding plus formula. Conversely, in mothers on breastfeeding plus formulas, symptoms and signs of stress almost disappeared. In conclusion, GAL or PKU mothers with breastfeeding only experienced the highest degree of stress when asked for breastfeeding replacement. Psychological support made all the studied groups to feel better or free of symptoms and signs of stress.
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Lactancia Materna/psicología , Consejo , Alimentos Formulados/estadística & datos numéricos , Galactosemias/dietoterapia , Aceptación de la Atención de Salud , Fenilcetonurias/dietoterapia , Estrés Psicológico , Adulto , Lactancia Materna/estadística & datos numéricos , Femenino , Humanos , Recién Nacido , Factores de TiempoRESUMEN
Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism. Bacterial infections are a known cause of early morbidity and mortality in children with classic galactosemia. The most common agent is Escherichia coli, but in rare situations, other bacteria are incriminated. We report a case of a three-week-old female patient with galactosemia, who presented with Group B Streptococcus (GBS) meningitis/sepsis. She received treatment with antibiotics, supportive therapy, and erythrocyte transfusion, but after a short period of improvement, she presented acute liver failure with suspicion of an inborn error of metabolism. Rapid nuclear magnetic resonance (NMR) spectroscopy from urine showed highly elevated values of galactose and galactitol. Under intensive treatment for acute liver failure and with a lactose-free diet, her clinical features and laboratory parameters improved considerably. Genetic testing confirmed compound heterozygous status for GALT mutations: c.563 A>G [p.Q188R] and c. 910 C>T, the last mutation being a novel mutation in GALT gene. In countries without an extensive newborn screening program, a high index of suspicion is necessary for early diagnosis and treatment of galactosemia.
Asunto(s)
Galactosemias/complicaciones , Galactosemias/genética , Fallo Hepático Agudo/complicaciones , Meningitis Bacterianas/complicaciones , Infecciones Estreptocócicas/complicaciones , UTP-Hexosa-1-Fosfato Uridililtransferasa/genética , Preescolar , Países Desarrollados , Femenino , Estudios de Seguimiento , Galactitol/orina , Galactosa/orina , Galactosemias/dietoterapia , Galactosemias/orina , Humanos , Recién Nacido , Prueba de Tolerancia a la Lactosa , Fallo Hepático Agudo/tratamiento farmacológico , Espectroscopía de Resonancia Magnética , Meningitis Bacterianas/tratamiento farmacológico , Mutación , Tamizaje Neonatal , Rumanía , Infecciones Estreptocócicas/tratamiento farmacológico , StreptococcusRESUMEN
Purpose: Classical galactosaemia is an inborn error of galactose metabolism which may lead to impairments in body functions and accordingly, need for additional care. The primary aim of this study was to establish the type and intensity of this additional care. Materials and methods: Patients with classical galactosaemia aged ≥2 years were evaluated with the Capacity Profile, a standardised method to classify additional care needs according to type and intensity. Based on a semi-structured interview, current impairments in five domains of body functions were determined. The intensity of additional care was assessed (from 0, usual care, to 5, total dependence). Results: Forty-four patients with classical galactosaemia, 18 males and 26 females (median age 15 years, range 2-49 years), were included. There was a wide spectrum of impairments in mental functions. Motor function impairments were present in four patients, and mild speech impairments in eight patients. Additional care for sensory functions was uncommon. All patients needed a diet, which care is scored in the physical health domain. Conclusions: Apart from the diet all patients need, classical galactosaemia leads to the need for additional care mainly in the domains of mental functions and speech and voice functions. Implications for rehabilitation The Capacity Profile is a useful tool to demonstrate additional care needs in classical galactosaemia. In classical galactosaemia additional care is mostly indicated by mental impairments and speech and voice functions. One-fifth of patients have impairment of speech and voice functions at time of the study, and half of all patients had received speech therapy in childhood. Over 70% of patients need additional care/help due to impairment of mental functions, ranging from coaching due to social vulnerability to full day care.
Asunto(s)
Disfunción Cognitiva , Galactosemias , Trastornos de la Destreza Motora , Trastornos del Habla , Adolescente , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/etiología , Disfunción Cognitiva/rehabilitación , Evaluación de la Discapacidad , Progresión de la Enfermedad , Femenino , Galactosemias/dietoterapia , Galactosemias/fisiopatología , Galactosemias/psicología , Galactosemias/rehabilitación , Humanos , Masculino , Trastornos de la Destreza Motora/diagnóstico , Trastornos de la Destreza Motora/etiología , Trastornos de la Destreza Motora/rehabilitación , Evaluación de Necesidades , Trastornos del Habla/diagnóstico , Trastornos del Habla/genética , Trastornos del Habla/rehabilitaciónRESUMEN
Classic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young women. Our goal in the study reported here was to define the presentation, progression, and predictors of ovarian insufficiency in a cohort of 102 post-pubertal girls and women with CG. To our knowledge, this is the largest cohort studied to date. We found that 68% of the girls and women in our study achieved spontaneous menarche, while 32% achieved menarche only after starting hormone replacement therapy (HRT). Of those who achieved spontaneous menarche, fewer than 50% were still cycling regularly after 3 years, and fewer than 15% were still cycling regularly after 10 years. Of factors tested for possible association with spontaneous menarche, only detectable (≥ 0.04 ng/mL) plasma anti-Müllerian hormone (AMH) level was significant. These results extend substantially from prior studies and confirm that detectable plasma AMH is a useful predictor of ovarian function in girls and women with CG.
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Hormona Antimülleriana/sangre , Galactosemias/complicaciones , Menarquia , Insuficiencia Ovárica Primaria/etiología , Adolescente , Adulto , Biomarcadores/sangre , Progresión de la Enfermedad , Femenino , Galactosemias/dietoterapia , Terapia de Reemplazo de Hormonas , Humanos , Estimación de Kaplan-Meier , Valor Predictivo de las Pruebas , Insuficiencia Ovárica Primaria/sangre , Adulto JovenRESUMEN
Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes galactosemia, an autosomal recessive disorder of galactose metabolism. Early initiation of a galactose-restricted diet can prevent or resolve neonatal complications. Despite therapy, patients often experience long-term complications including speech impairment, learning disabilities, and premature ovarian insufficiency in females. This study evaluates clinical outcomes in 34 galactosemia patients with markedly reduced GALT activity and compares outcomes between patients with different levels of mean galactose-1-phosphate in red blood cells (GAL1P) using logistic regression: group 1 (n = 13) GAL1P ≤1.7 mg/dL vs. group 2 (n = 21) GAL1P ≥ 2 mg/dL. Acute symptoms at birth were comparable between groups (p = 0.30) with approximately 50% of patients presenting with jaundice, liver failure, and failure-to-thrive. However, group 2 patients had significantly higher prevalence of negative long-term outcomes compared to group 1 patients (p = 0.01). Only one of 11 patients >3 yo in group 1 developed neurological and severe behavioral problems of unclear etiology. In contrast, 17 of 20 patients >3 yo in group 2 presented with one or more long-term complications associated with galactosemia. The majority of females ≥15 yo in this group also had impaired ovarian function with markedly reduced levels of anti-Müllerian hormone. These findings suggest that galactosemia patients with higher GAL1P levels are more likely to have negative long-term outcome. Therefore, evaluation of GAL1P levels on a galactose-restricted diet might be helpful in providing a prognosis for galactosemia patients with rare or novel genotypes whose clinical presentations are not well known.
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Eritrocitos/metabolismo , Galactosemias/sangre , Galactosemias/complicaciones , Galactosafosfatos/sangre , UTP-Hexosa-1-Fosfato Uridililtransferasa/deficiencia , Adolescente , Desarrollo del Adolescente , Adulto , Factores de Edad , Biomarcadores/sangre , Niño , Desarrollo Infantil , Fenómenos Fisiológicos Nutricionales Infantiles , Preescolar , Progresión de la Enfermedad , Femenino , Galactosemias/diagnóstico , Galactosemias/dietoterapia , Humanos , Lactante , Masculino , Estado Nutricional , Valor Predictivo de las Pruebas , Resultado del Tratamiento , UTP-Hexosa-1-Fosfato Uridililtransferasa/genética , Regulación hacia Arriba , Adulto JovenRESUMEN
Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase. Classical galactosemia presents in the neonatal period with life threatening illness after galactose is introduced in the diet. Symptoms and signs include poor feeding, vomiting, and diarrhea, weight loss, jaundice, hypotension, cataracts, hepatosplenomegaly, hepatocellular insufficiency, and encephalopathy. Since 1975 the testing for galactosemia is part of the neonatal screening program in Hungary. Affected newborns are recognized in the first days of their life, and special diet is introduced immediately. The therapy of galactosemia is the lactose-free and galactose-poor diet for life. As a result of the nationwide newborn screening and the lifelong medical therapy, early treatment with galactosemia can achieve a normal life without serious complications. Orv Hetil. 2017; 158(47): 1864-1867.
Asunto(s)
Dieta Saludable , Galactosemias/dietoterapia , Enfermedades del Recién Nacido/dietoterapia , Femenino , Galactosa/metabolismo , Galactosemias/diagnóstico , Galactosemias/metabolismo , Humanos , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico , MasculinoRESUMEN
Dietary management of 418 adult patients with galactosaemia (from 39 centres/12 countries) was compared. All centres advised lactose restriction, 6 restricted galactose from galactosides ± fruits and vegetables and 12 offal. 38% (n=15) relaxed diet by: 1) allowing traces of lactose in manufactured foods (n=13) or 2) giving fruits, vegetables and galactosides (n=2). Only 15% (n=6) calculated dietary galactose. 32% of patients were lost to dietetic follow-up. In adult galactosaemia, there is limited diet relaxation.
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Dieta , Galactosa/administración & dosificación , Galactosemias/dietoterapia , Adulto , Alimentos , Frutas , Humanos , Lactosa/administración & dosificación , Encuestas y Cuestionarios , VerdurasRESUMEN
White matter abnormalities have been observed in patients with classic galactosemia, an inborn error of galactose metabolism. However, magnetic resonance imaging (MRI) data collected in the past were generally qualitative in nature. Our objective was to investigate white matter microstructure pathology and examine correlations with outcome and behaviour in this disease, by using multi-shell diffusion weighted imaging. In addition to standard diffusion tensor imaging (DTI), neurite orientation dispersion and density imaging (NODDI) was used to estimate density and orientation dispersion of neurites in a group of eight patients (aged 16-21 years) and eight healthy controls (aged 15-20 years). Extensive white matter abnormalities were found: neurite density index (NDI) was lower in the patient group in bilateral anterior areas, and orientation dispersion index (ODI) was increased mainly in the left hemisphere. These specific regional profiles are in agreement with the cognitive profile observed in galactosemia, showing higher order cognitive impairments, and language and motor impairments, respectively. Less favourable white matter properties correlated positively with age and age at onset of diet, and negatively with behavioural outcome (e.g. visual working memory). To conclude, this study provides evidence of white matter pathology regarding density and dispersion of neurites in these patients. The results are discussed in light of suggested pathophysiological mechanisms.
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Mapeo Encefálico/métodos , Imagen de Difusión por Resonancia Magnética/métodos , Galactosemias/patología , Neuritas/patología , Sustancia Blanca/patología , Adolescente , Factores de Edad , Estudios de Casos y Controles , Cognición , Dieta Baja en Carbohidratos , Femenino , Galactosemias/dietoterapia , Galactosemias/fisiopatología , Galactosemias/psicología , Humanos , Lenguaje , Masculino , Actividad Motora , Valor Predictivo de las Pruebas , Pronóstico , Sustancia Blanca/fisiopatología , Adulto JovenRESUMEN
The galactose-restricted diet is life-saving for infants with classic galactosemia. However, the benefit and extent of dietary galactose restriction required after infancy remain unclear and variation exists in practice. There is a need for evidence-based recommendations to better standardize treatment for this disorder. This paper reviews the association between diet treatment and outcomes in classic galactosemia and evaluates the contribution of food sources of free galactose in the diet. Recommendations include allowing all fruits, vegetables, legumes, soy products that are not fermented, various aged cheeses and foods containing caseinates. Further research directions are discussed.
Asunto(s)
Dieta Baja en Carbohidratos , Galactosa , Galactosemias/dietoterapia , Factores de Edad , Alimentos , HumanosRESUMEN
There are inconsistent reports on the lactose and/or galactose content of some foods traditionally restricted from the diet for classic galactosemia. Therefore, samples of cheeses, caseinates, and canned black, pinto, kidney, and garbanzo beans were analyzed for free galactose content using HPLC with refractive index or pulsed amperometric detection. Galactose concentrations in several hard and aged cheeses and three mild/medium Cheddars, produced by smaller local dairies, was <10 mg/100 g sample compared to 55.4 mg/100 g sample in four sharp Cheddars produced by a multinational producer. Galactose in sodium and calcium caseinate ranged from undetectable to 95.5 mg/100 g sample. Free galactose level in garbanzo beans was lower than previously reported at 24.6 mg/100 g sample; black beans contained 5.3 mg/100 g, and free galactose was not detected in red kidney or pinto beans. These data provide a basis for recommending inclusion of legumes, caseinate-containing foods, and some aged hard cheeses that had been previously restricted in the diet for individuals with galactosemia.
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Caseínas/química , Queso/análisis , Fabaceae/química , Galactosa/análisis , Galactosemias/dietoterapia , Dieta , Humanos , UTP-Hexosa-1-Fosfato Uridililtransferasa/deficienciaRESUMEN
Galactosemia is an inherited metabolic disease in which galactose is not properly metabolised. There are various theories to explain the molecular pathology, and recent experimental evidence strongly suggests that oxidative stress plays a key role. High galactose diets are damaging to experimental animals and oxidative stress also plays a role in this toxicity which can be alleviated by purple sweet potato colour (PSPC). This plant extract is rich in acetylated anthocyanins which have been shown to quench free radical production. The objective of this Commentary is to advance the hypothesis that PSPC, or compounds therefrom, may be a viable basis for a novel therapy for galactosemia.
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Antocianinas/uso terapéutico , Suplementos Dietéticos , Galactosemias/dietoterapia , Ipomoea batatas/química , Pigmentos Biológicos/uso terapéutico , Extractos Vegetales/uso terapéutico , Tubérculos de la Planta/química , Acetilación , Animales , Antocianinas/metabolismo , Antioxidantes/metabolismo , Antioxidantes/uso terapéutico , Suplementos Dietéticos/análisis , Galactosemias/metabolismo , Humanos , Ipomoea batatas/metabolismo , Estrés Oxidativo , Fitoterapia , Pigmentos Biológicos/metabolismo , Extractos Vegetales/química , Tubérculos de la Planta/metabolismoRESUMEN
BACKGROUND: The aim of this study was to evaluate the features and outcome of classic galactosemia diagnosed in the neonatal period. METHODS: A retrospective study was carried out on 22 newborns with classic galactosemia who were followed-up in a tertiary neonatal intensive care unit from January 2005 to January 2011. RESULTS: During the study period, 22 (18 boys, 4 girls) newborns were diagnosed with classic galactosemia. The median gestational age was 38 weeks (31 - 42) with a median age of 13 (3 - 23) days on admission. Major presenting symptoms were hepatomegaly (n = 22, 100%), jaundice [n = 19, 86%; including (n = 14, 63%) indirect and (n = 8, 36%) direct hyperbilirubinemia], vomiting (n = 17, 77%), and nuclear cataract (n = 15, 68%). Liver dysfunction (n = 22, 100%), Escherichia coli sepsis (n = 10), purpura fulminans (n = 1), hemophagocytosis (n = 1), and long QT syndrome (n = 1) were also noted. Cataract resolved in 11 (73%) patients with galactose-restricted diet in the first months. Four patients were operated for cataracts. Neurodevelopmental evaluation showed mild psychomotor retardation in one patient, learning disabilities in five, and developmental delay in three. None died from galactosemia or its complications. Patients who were diagnosed before 17 days did not require cataract operation. CONCLUSIONS: Early diagnosis of galactosemia and treatment with a galactose-restricted diet could partially prevent and recover complications of the disease, but not all of them. Cataracts can develop even in the first few weeks of life. Early diagnosis seems important in the prevention of severe cataracts. Therefore, newborn screening for galactosemia should improve morbidity.
Asunto(s)
Galactosemias/diagnóstico , Enfermedades del Recién Nacido/diagnóstico , Adolescente , Adulto , Femenino , Galactosemias/dietoterapia , Galactosemias/fisiopatología , Humanos , Recién Nacido , Enfermedades del Recién Nacido/dietoterapia , Enfermedades del Recién Nacido/fisiopatología , Masculino , Tamizaje Neonatal , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
CONTEXT: Classic galactosemia is a potentially lethal genetic disorder resulting from profound impairment of galactose-1P uridylyltransferase (GALT). More than 80% of girls and women with classic galactosemia experience primary or premature ovarian insufficiency despite neonatal diagnosis and rigorous lifelong dietary galactose restriction. OBJECTIVE: The goal of this study was to test the relationship between markers of ovarian reserve, cryptic residual GALT activity, and spontaneous pubertal development in girls with classic galactosemia. DESIGN AND SETTING: This was a cross-sectional study with some longitudinal follow-up in a university research environment. PATIENTS: Patients included girls and women with classic galactosemia and unaffected controls, <1 month to 30 years old. MAIN OUTCOME MEASURES: We evaluated plasma anti-Müllerian hormone (AMH) and FSH levels, antral follicle counts ascertained by ultrasound, and ovarian function as indicated by spontaneous vs assisted menarche. RESULTS: More than 73% of the pre- and postpubertal girls and women with classic galactosemia in this study, ages >3 months to 30 years, demonstrated AMH levels below the 95% confidence interval for AMH among controls of the same age, and both pre- and postpubertal girls and women with classic galactosemia also demonstrated abnormally low antral follicle counts relative to age-matched controls. Predicted residual GALT activity ≥ 0.4% significantly increased the likelihood that a girl with classic galactosemia would demonstrate an AMH level ≥ 0.1 ng/mL. CONCLUSIONS: A majority of girls with classic galactosemia demonstrate evidence of diminished ovarian reserve by 3 months of age, and predicted cryptic residual GALT activity is a modifier of ovarian function in galactosemic girls and women.
Asunto(s)
Hormona Antimülleriana/sangre , Regulación hacia Abajo , Galactosemias/fisiopatología , Ovario/fisiopatología , Insuficiencia Ovárica Primaria/etiología , UTP-Hexosa-1-Fosfato Uridililtransferasa/metabolismo , Adolescente , Adulto , Biomarcadores/sangre , Biomarcadores/metabolismo , Niño , Preescolar , Estudios Transversales , Femenino , Estudios de Seguimiento , Galactosemias/dietoterapia , Galactosemias/metabolismo , Galactosemias/patología , Humanos , Lactante , Recién Nacido , Estudios Longitudinales , Proteínas Mutantes/metabolismo , Ovario/diagnóstico por imagen , Ovario/metabolismo , Ovario/patología , Insuficiencia Ovárica Primaria/diagnóstico por imagen , Pubertad , Proteínas Recombinantes/metabolismo , UTP-Hexosa-1-Fosfato Uridililtransferasa/genética , Ultrasonografía , Adulto JovenRESUMEN
Phenylketonuria, galactosemia and celiac disease are disorders in which elimination diets are the only known therapy, which reverses many clinical manifestations of acute phase in the patients. Unfortunately, most of them develop long-term complications, including bone turnover impairment and low bone mineral density. These disturbances are not only observed in adulthood but also in childhood and adolescence. Insufficient accumulation of peak bone mass in these periods is a risk factor for osteoporosis and fractures in later life. The pathological mechanisms leading to a diminished bone mineral content in these disorders are not well known. The patients might be at risk for a decreased bone mineral content because of either dietary deficiencies secondary to the elimination diets and/or unknown intrinsic factors. This article overviews bone metabolism disturbances in phenylketonuria, galactosemia and celiac disease during childhood and adolescence, when growth and bone turnover are most intensive. The available data and own results concerning bone markers in children with these disorders and proposal for the prevention of osteoporosis in pediatric patients treated with elimination diets are discussed.
Asunto(s)
Enfermedades Óseas Metabólicas/etiología , Enfermedades Óseas Metabólicas/prevención & control , Huesos/metabolismo , Enfermedad Celíaca/dietoterapia , Dietoterapia/efectos adversos , Galactosemias/dietoterapia , Fenilcetonurias/dietoterapia , Adolescente , Adulto , Densidad Ósea , Niño , Femenino , Fracturas Óseas/etiología , Fracturas Óseas/prevención & control , Humanos , Masculino , Osteoporosis/etiología , Osteoporosis/prevención & control , Factores de Riesgo , Adulto JovenRESUMEN
Without intervention, classic galactosemia is a potentially fatal disorder in infancy. With the benefit of early diagnosis and dietary restriction of galactose, the acute sequelae of classic galactosemia can be prevented or reversed. However, despite early and lifelong dietary treatment, many galactosemic patients go on to experience serious long-term complications including cognitive disability, speech problems, neurological and/or movement disorders and, in girls and women, ovarian dysfunction. Further, there remains uncertainty surrounding what constitutes a 'best practice' for treating this disorder. To explore the extent and implications of this uncertainty, we conducted a small but global survey of healthcare providers who follow patients with classic galactosemia, seeking to compare established protocols for diagnosis, intervention, and follow-up, as well as the outcomes and outcome frequencies seen in the patient populations cared for by these providers. We received 13 survey responses representing five continents and 11 countries. Respondents underscored disparities in approaches to diagnosis, management and follow-up care. Notably, we saw no clear relationship between differing approaches to care and long-term outcomes in the populations studied. Negative outcomes occurred in the majority of cases regardless of when treatment was initiated, how tightly galactose intake was restricted, or how closely patients were monitored. We document here what is, to our knowledge, the first global comparison of healthcare approaches to classic galactosemia. These data reinforce the idea that there is currently no one best practice for treating patients with classic galactosemia, and underscore the need for more extensive and statistically powerful comparative studies to reveal potential positive or negative impacts of differing approaches.