This report describes an 11-month old girl with Hartnup disease presenting with kwashiorkor and acrodermatitis enteropathica-like skin lesions but free of other clinical findings. This case with kwashiorkor had acrodermatitis enteropathica-like desquamative skin eruption. Since zinc level was in the normal range, investigation for a metabolic disorder was considered, and Hartnup disease was diagnosed.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965334 | PMC |
http://dx.doi.org/10.3329/jhpn.v28i4.6049 | DOI Listing |
Neurol Genet
December 2024
From the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.
IBRO Neurosci Rep
June 2023
Schmidt College of Medicine, Florida Atlantic University (FAU), 777 Glades Road, Boca Raton, FL 33431, USA.
Hartnup disease is an autosomal recessive, metabolic disorder caused by mutations of the neutral amino acid transporter, SLC6A19/B0AT1. Reduced absorption in the intestine and kidney results in deficiencies in neutral amino acids and their down-stream metabolites, including niacin, associated with skin lesions and neurological symptoms. The effects on the nervous system such as ataxia have been related to systemic deficiencies of tryptophan (and other neutral amino acids) as no expression of the B0AT1 transporter was found in the brain.
View Article and Find Full Text PDFTremor Other Hyperkinet Mov (N Y)
April 2023
Beacon Hospital, Sandyford, Dublin 18, Ireland.
Background: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders. EA1 and EA2 are most frequently encountered, caused by mutations in and . EA3-8 are reported in rare families.
View Article and Find Full Text PDFFront Mol Biosci
September 2022
Ludwig Institute for Cancer Research, Brussels, Belgium.
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