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Hartnup Disease
Published in Charles Theisler, Adjuvant Medical Care, 2023
Diet: Hartnup disease can be reduced or avoided by maintaining good nutrition, including a high protein diet, to help overcome the deficient transport of neutral amino acids in most patients.6,7
Nutritional Diseases
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Chelsea Kesty, Madeline Hooper, Erin McClure, Emily Chea, Cynthia Bartus
Overview: Niacin is absorbed in the small intestine, and deficiency may be encountered in patients with decreased intake and absorption of niacin, chronic and excessive alcohol intake, malabsorption syndromes, and anorexia. Deficiency may be induced by medications that decrease absorption, such as 5-fluorouracil, azathioprine, and isoniazid. Hartnup disease, a congenital defect in neutral amino acid absorption, presents similarly to niacin deficiency due to the reduced absorption of tryptophan. Niacin has been shown to increase high-density lipoproteins (HDL) and decrease triglycerides; it can be prescribed for those patients with hyperlipidemia.
Nutrition as treatment
Published in Geoffrey P. Webb, Nutrition, 2019
In addition to diseases where exclusion is the primary dietetic aim there are a few diseases that are not of primary dietary origin but can be alleviated by nutrient supplements. Pernicious anaemia is probably the best known example; autoimmune destruction of the parietal cells of the stomach results in a failure of vitamin B12 absorption. Most of the symptoms of this potentially fatal disease can be alleviated by regular injections of B12. Hartnup disease is a rare but fatal inherited disorder with symptoms that resemble those of pellagra (niacin deficiency). The symptoms of this disease result from a failure to absorb the amino acid tryptophan (the precursor of niacin) which leads to niacin deficiency. The condition responds to niacin treatment which reduces the dermatitis and neurological consequences of pellagra. If plenty of protein is given, tryptophan may be absorbed in di- and tri-peptides.
A 52-week multicenter retrospective real-world study on effectiveness and safety of dupilumab in children with atopic dermatitis aged from 6 to 11 years
Published in Journal of Dermatological Treatment, 2023
Cataldo Patruno, Gabriella Fabbrocini, Giuseppe Lauletta, Valeria Boccaletti, Cristiana Colonna, Riccardo Cavalli, Iria Neri, Michela Ortoncelli, Donatella Schena, Luca Stingeni, Katharina Hansel, Vincenzo Piccolo, Veronica Di Brizzi, Concetta Potenza, Ersilia Tolino, Luca Bianchi, Sara Manti, Rocco De Pasquale, Vito Di Lernia, Lucia Caminiti, Elena Galli, Paola Coppo, Andrea Chiricozzi, Clara De Simone, Cristina Guerriero, Fabrizio Giuseppe Amoruso, Eugenio Provenzano, Salvatore Leonardi, Amelia Licari, Gian Luigi Marseglia, Antonino Palermo, Sabrina Di Pillo, Daniele Russo, Viviana Moschese, Vincenzo Patella, Tiziana Peduto, Caterina Ferreli, Paola Zangari, Federica Veronese, Samantha Federica Berti, Michaela Gruber, Elena Pezzolo, Stefania Termine, Rosanna Satta, Federica Dragoni, Maria Esposito, Maria Concetta Fargnoli, Paolo Chiodini, Ylenia Vallone, Francesca di Vico, Vincenzo Picone, Maddalena Napolitano
The clinical data of 100 patients were reviewed, of which 4 patients were excluded because of incomplete clinical information. Ninety-six AD children [males: 50 (52.1%)] diagnosed with moderate-to-severe AD and treated with dupilumab during the reference period were evaluated. The mean age was 8.22 ± 3.96 years and the average disease duration was 7.15 ± 5.08 years. AD started within the first year of age in 63/96 (65.6%), between 2 and 6 years in 27/96 (28.1%), and after 6 years in 6/96 (6.25%) patients, respectively. At baseline, 58/96 (60.4%) patients had a family history of AD; 50/96 (52%) reported at least 1 concurrent atopic comorbidity, with allergic rhinitis accounting for 45.8% (44/96), asthma for 33.3% (32/96), conjunctivitis for 12.5% (12/96), and food allergy for 6.25% (6/96) of cases. Other comorbidities included attention deficit hyperactivity disorder (7/96; 7.3%), celiac disease (5/96; 5.2%), chronic urticaria (2/96; 2.1%), von Willebrand disease (1/96; 1.04%), thalassemia major (1/96; 1.04%), Marfan syndrome (1/96; 1.04%), and primary immunodeficiency associated with Hartnup disease (1/96; 1.04%). The baseline demographic and clinical characteristics of patients are reported in Table 2.
Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature
Published in International Journal of Neuroscience, 2022
Melike Batum, Ayşın Kısabay Ak, Güldeniz Çetin, Hamide Betül Gerik Çelebi, Sırrı Çam, Hatice Mavioğlu
Episodic ataxia is a clinical condition characterized by episodes of balance and impairment that last minutes to hours. It can be inherited or occur sporadically. It can also be seen sporadically in epilepsy, basilar migraine, multiple sclerosis, vertebrobasilar ischaemia, and labyrinth diseases. Apart from these. Symptoms of paroxysmal dysarthria-ataxia (secondary PDA) may also be present. Attacks of paroxysmal ataxia of primary type have been associated with genetic etiologies (EA 1-7) [1]. Hereditary episodic ataxias, spinocerebellar ataxia type 6, some mitochondrial disorders (such as pyruvate decarboxylase deficiency and pyruvate dehydrogenase deficiency), aminoaciduria (such as Hartnup disease, ketoaciduria, and isovaleric acidaemia), and hyperammonaemia due to urea cycle enzyme deficiency can also lead to episodic ataxia [1].