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

• Published in: Archives of neurology (Chicago) Vol. 78; no. 4; p. 483
• Main Authors: Mandia, Daniele, Shor, Natalia, Benoist, Jean-François, Nadjar, Yann
• Format: Journal Article
• Language: English
• Published: United States American Medical Association 01.04.2021
• Subjects: Adolescent; Adolescents; Adult; Adults; Age of Onset; Avitaminosis - drug therapy; Avitaminosis - epidemiology; Avitaminosis - genetics; Children; Disease; Drug therapy; Genetic disorders; Health services; Hereditary diseases; Humans; Nervous System Diseases - drug therapy; Nervous System Diseases - epidemiology; Nervous System Diseases - genetics; Neurological diseases; Patients; Phenotypes; Signs and symptoms; Teenagers; Tetrahydrobiopterin; Vitamin A - administration & dosage; Vitamin B Complex - administration & dosage; Vitamin B12; Vitamin B6; Vitamin E - administration & dosage; Vitamins
• ISSN: 2168-6149; 2168-6157
• DOI: 10.1001/jamaneurol.2020.4911

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. 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. 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.