questionsmedicales.fr
Maladies métaboliques et nutritionnelles
Maladies métaboliques
Erreurs innées du métabolisme
Aminoacidopathies congénitales
Aminoacidopathies congénitales : Questions médicales fréquentes
Diagnostic
5
Aminoacidopathies
Diagnostic médical
Dépistage néonatal
Aminoacides
Tests génétiques
Aminoacidopathies
Symptômes
Troubles neurologiques
Consultation médicale
Aminoacidopathies
Symptômes
5
Symptômes
Retard de croissance
Aminoacidopathies
Acides aminés
Troubles mentaux
Aminoacidopathies
Prévention
5
Prévention
Dépistage néonatal
Conseil génétique
Aminoacidopathies
Femmes enceintes
Dépistage
Nourrissons
Suivi médical
Traitements
5
Traitement
Régime alimentaire
Médicaments
Aminoacidopathies
Thérapie génique
Aminoacidopathies
Surveillance
Tests sanguins
Traitement à vie
Aminoacidopathies
Complications
5
Complications
Troubles neurologiques
Réversibilité
Aminoacidopathies
Qualité de vie
Complications
Risque de décès
Aminoacidopathies
Suivi médical
Complications
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Origine ethnique
Aminoacidopathies
Parents porteurs
Transmission génétique
Âge des parents
Mutations génétiques
Facteurs environnementaux
Aminoacidopathies
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"@type": "Question",
"name": "Le conseil génétique est-il utile ?",
"position": 12,
"acceptedAnswer": {
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"text": "Oui, le conseil génétique peut aider les familles à comprendre les risques de transmission."
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"position": 13,
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"@type": "Question",
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"name": "Les vaccinations aident-elles à prévenir ?",
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"text": "Les vaccinations ne préviennent pas les aminoacidopathies, mais protègent contre d'autres maladies."
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"position": 16,
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"text": "Le traitement principal consiste en un régime alimentaire strict limité en acides aminés spécifiques."
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"position": 17,
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"name": "La thérapie génique est-elle une option ?",
"position": 18,
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"name": "Comment surveiller l'efficacité du traitement ?",
"position": 19,
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"name": "Le traitement est-il à vie ?",
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"position": 22,
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"position": 23,
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"name": "L'origine ethnique influence-t-elle le risque ?",
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"position": 28,
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"name": "Y a-t-il des facteurs environnementaux ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 05/05/2026
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
Publications dans "Aminoacidopathies congénitales" :
3 publications dans cette catégorie
Affiliations :
Junshin Clinic Bile Acid Institute, Tokyo, Japan.
Publications dans "Aminoacidopathies congénitales" :
3 publications dans cette catégorie
Affiliations :
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.
Kumamoto-Ashikita Medical Center for the Severely Disabled, Ashikita, Japan.
Publications dans "Aminoacidopathies congénitales" :
3 publications dans cette catégorie
Affiliations :
Department of Pediatrics, University of Pittsburgh School of Medicine, Department of Human Genetics, Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.
Publications dans "Aminoacidopathies congénitales" :
2 publications dans cette catégorie
Affiliations :
Junshin Clinic Bile Acid Institute, Tokyo, Japan.
Publications dans "Aminoacidopathies congénitales" :
2 publications dans cette catégorie
Affiliations :
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Rare Disease Institute, Children's National Health System, Washington, DC, United States.
Publications dans "Aminoacidopathies congénitales" :
2 publications dans cette catégorie
Affiliations :
Department of Neurology, Children's National, Washington, DC 20010, USA.
Publications dans "Aminoacidopathies congénitales" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry & Molecular Biology, University of Nevada Reno, Reno, NV 89557, USA.
Publications dans "Aminoacidopathies congénitales" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry & Molecular Biology, University of Nevada Reno, Reno, NV 89557, USA.
Publications dans "Aminoacidopathies congénitales" :
2 publications dans cette catégorie
Affiliations :
Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-millat university, H-8/4, Islamabad, Pakistan. dr.sumreena@gmail.com.
Publications dans "Aminoacidopathies congénitales" :
2 publications dans cette catégorie
Affiliations :
Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.
Publications dans "Aminoacidopathies congénitales" :
1 publication dans cette catégorie
Affiliations :
Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, USA.
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
St. Louis Children's Hospital, St. Louis, MO, USA.
Publications dans "Aminoacidopathies congénitales" :
1 publication dans cette catégorie
Affiliations :
St. Louis Children's Hospital, St. Louis, MO, USA.
Publications dans "Aminoacidopathies congénitales" :
1 publication dans cette catégorie
Affiliations :
Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, USA. dietzen_d@kids.wustl.edu.
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA. dietzen_d@kids.wustl.edu.
St. Louis Children's Hospital, St. Louis, MO, USA. dietzen_d@kids.wustl.edu.
Publications dans "Aminoacidopathies congénitales" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatrics, School of Nursing and Midwifery, Mashhad University of Medical Sciences, Mashhad, Iran.
Publications dans "Aminoacidopathies congénitales" :
1 publication dans cette catégorie
Affiliations :
Nursing and Midwifery Care Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Publications dans "Aminoacidopathies congénitales" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatric and Endocrinology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Publications dans "Aminoacidopathies congénitales" :
1 publication dans cette catégorie
Affiliations :
Nursing and Midwifery Care Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. heidarya@mums.ac.ir.
Publications dans "Aminoacidopathies congénitales" :
1 publication dans cette catégorie
Affiliations :
Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7, Nijmegen, the Netherlands.
Publications dans "Aminoacidopathies congénitales" :
1 publication dans cette catégorie
Affiliations :
Radboud University, Institute for Molecules and Materials, Synthetic Organic Chemistry, Nijmegen, the Netherlands.
Publications dans "Aminoacidopathies congénitales" :
Amino acids are organic molecules that serve as basic substrates for protein synthesis and have additional key roles in a diverse array of cellular functions, including cell signaling, gene expression...
There is growing concern about the low-protein and high-energy diet therapies used in the treatment of inherited amino acid metabolism disorders. We aimed to identify the risk factors for noncommunica...
The present study evaluates 112 patients, on long-term nutritional therapy for at least the last 2 years with a diagnosis of an inborn error of the amino acid metabolism, and their 28 healthy siblings...
Anthropometric measurements including BMI, weight Z-score, waist circumference and fat mass were not significantly different between patients and controls. Height Z-scores were similar in phenylketonu...
All forms of malnutrition can be prevented in patient groups receiving limited nutrients under a dietary management protocol, based on the findings of anthropometric and biochemical evaluations and an...
Inborn errors of amino acid metabolism are chronic conditions that have many sequels. Mothers of these children are facing different challenges which are underdetermined. This study was done to explor...
This is an interpretive phenomenology with van Manen's approach which has 6 steps. Data were gathered by convenience and purposeful sampling. Nine mothers with different experiences were interviewed a...
Six final themes were revealed from the exploring mothers' experiences including the future tied to the past, psychosis in the shadow of a lost ideal child, rebellion and blaming, the ways of escaping...
Mothers have multiple challenges in taking care of their children, especially psychologically and financially. So, nurses must plan programs for helping mothers of children with inborn errors of amino...
As the diagnosis and treatment of patients with inborn errors of metabolism has improved dramatically over the years, more people with these conditions are surviving into child-bearing years. Given th...
In addition to the numerous immunological and nutritional benefits that breast milk offers to infants, its proportion in the diet must be limited or even excluded in the case of inborn errors of amino...
Inborn errors of metabolism (IEM) represent a heterogeneous group of more than 1800 rare disorders, many of which are causing significant childhood morbidity and mortality. More than 100 IEM are linke...
Human milk (HM) offers important nutritional benefits. However, except for phenylketonuria (PKU), there are little data on optimal levels of consumption of HM and a special formula free of disease-rel...
Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial neurometabolic disorder of energy deficit, with incidence of about 1 in 42,000 live births annually in the USA. The median and mean ...
We reviewed medical records of patients seen at UPMC in the past 11 years with molecularly or enzymatically confirmed diagnosis. We collected plasma AA analysis data from samples prior to initiation o...
Alanine/Lysine (Ala/Lys) and Ala/Leu as well as (Ala + Pro)/(Leu + Lys) and Ala/Leu ratio combinations effectively discriminated subjects with PDCD from those with other MtDs and IEMs on current newbo...
With the best predictor of survival and positive cognitive outcome in PDCD being age of diagnosis, PDCD patients would benefit from use of such highly SN and SP AA ratio combination cutoffs as biomark...
Inborn errors of bile acid metabolism (IEBAM) cause cholestasis during the neonatal period, and 8 types of IEBAM have been reported to date. IEBAM accounts for approximately 2% of cases of cholestasis...
Inborn errors of metabolism (IEMs) are a vast array of inherited/congenital disorders, affecting a wide variety of metabolic pathways and/or biochemical processes inside the cells. Although IEMs are u...