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Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review | Nutrition | JAMA Neurology | ÌÇÐÄvlog

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1 Comment for this article
Another Polypill?
Paul Nelson, MS, MD |
Multiple RCT trials of multi-vitamins have shown no impact on long-term health. Some of the applicable disorders have a genetic-related family history for prompting pediatric screening. Most Primary Physicians have become sensitized to "sniff-out primary B-12, Vitamin D, and Thiamin disorders." Even these three occur individually as a group of "less than 10-15 patients" per suburban-rural, Primary Physician career.
CONFLICT OF INTEREST: None Reported
Review
January 11, 2021

Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review

Author Affiliations
  • 1Neuro-Metabolism Unit, Reference Center for Lysosomal Diseases, Neurology Department, Hôpital Pitié-Salpêtrière, Paris, France
  • 2Department of Neuroradiology, Pitié-Salpêtrière Hospital, Paris, France
  • 3Sorbonne University, Paris VI University, Paris, France
  • 4Metabolic Biochemistry Laboratory, Necker Enfants Malades University Hospital, Assistance Publique–Hôpitaux de Paris, Paris, France
JAMA Neurol. 2021;78(4):483-490. doi:10.1001/jamaneurol.2020.4911
Abstract

ImportanceÌý Vitamin-responsive inherited diseases are among the rare genetic disorders with a specific pharmacological treatment. Many of these conditions have a prominent neurological phenotype that is mainly reported in children. Being rare and often strikingly different in adult-onset forms, they are still poorly known in the medical fields specific to adults.

ObservationÌý This article reviews all articles reporting cases of patients with a genetically confirmed inherited vitamin-responsive neurological disease and neurological onset after the age of 10 years. On this basis, 24 different diseases are described, involving vitamins A, B1, B2, B3, B6, B8, B9, B12, E, and tetrahydrobiopterin (BH4). Information such as clinical symptoms, disease course, imaging studies, biochemical alterations, and response to treatment present an overall picture of these patients.

Conclusions and RelevanceÌý Vitamin-responsive neurogenetic diseases represent a group of rare conditions that are probably underdiagnosed in adults and may have a dramatic response to treatment when started early in the course of the disease. In this review, main features of the adult-onset forms are defined and simple key messages are provided to help identify clinical situations when specific diagnostic tests should be performed and/or vitamins should be promptly administered.

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