Hartnup disease masked by kwashiorkor.

J Health Popul Nutr

Department of Pediatric Endocrinology and Metabolism, Ataturk University, Erzurum, Turkey.

Published: August 2010

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/PMC2965334PMC
http://dx.doi.org/10.3329/jhpn.v28i4.6049DOI Listing

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  • Inborn metabolic diseases in adults are often overlooked, particularly in routine diagnostics where suspicion is low.
  • A young patient initially diagnosed with anxiety disorder was ultimately found to have Hartnup disease after a series of unsuccessful treatments and extensive testing, which included whole-exome sequencing.
  • Following diagnosis, dietary changes and niacin supplementation led to significant improvements in the patient's condition, emphasizing the need for metabolic assessments in challenging neuropsychiatric cases.
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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.

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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.

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Article Synopsis
  • *The review highlights the mechanisms behind tryptophan homeostasis, focusing on its absorption, transport, metabolism, and elimination, and how these processes are linked to immune function and disorders.
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