Neutral 1 amino acid transport defect

disorder

SNOMED 80902009CUI C0018609

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Hartnup Disease" from the MEDLINE/PubMed database.

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Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.

[object Object], [object Object], [object Object] et al. · Am J Med Genet A · 2022

PMID: 34459558Case Report

[Toward a more rational field-genetic epidemiology].

[object Object] · Nihon Eiseigaku Zasshi · 2010

PMID: 20134107Review

The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition.

[object Object] · IUBMB Life · 2009

PMID: 19472175ReviewFull text (PMC)

Apical transporters for neutral amino acids: physiology and pathophysiology.

[object Object] · Physiology (Bethesda) · 2008

PMID: 18400692Review

Natural disordered sequences in the amino terminal domain of nuclear receptors: lessons from the androgen and glucocorticoid receptors.

[object Object], [object Object], [object Object] et al. · Nucl Recept Signal · 2007

PMID: 17464357ReviewFull text (PMC)

[Disorders of renal tubular transport of amino acids, hexose and phosphate].

[object Object], [object Object], [object Object] · Nihon Rinsho · 2006

PMID: 16523947Review

Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder.

[object Object], [object Object], [object Object] · Biochem Soc Trans · 2005

PMID: 15667315Review

[Hartnup disorder].

[object Object] · Ryoikibetsu Shokogun Shirizu · 2001

PMID: 11462687Review

COVID-19 and Hartnup disease: an affair of intestinal amino acid malabsorption.

[object Object], [object Object], [object Object] · Eat Weight Disord · 2021

PMID: 32691334OtherFull text (PMC)

Biochemical phenotyping of multiple myeloma patients at diagnosis reveals a disorder of mitochondrial complexes I and II and a Hartnup-like disturbance as underlying conditions, also influencing different stages of the disease.

[object Object], [object Object], [object Object] et al. · Sci Rep · 2020

PMID: 33318510TrialFull text (PMC)

Search all PubMed articles for Neutral 1 amino acid transport defect

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Childhood attention deficit/hyperactivity disorder

Always present (100%)HP:0007018

Delayed language development

Always present (100%)HP:0000750

Elevated urinary indoleacetic acid level

Always present (100%)HP:6000332

Generalised tonic seizures

Always present (100%)HP:0010818

Hyperactive behaviour

Always present (100%)HP:0000752

Abnormal urinary color

Very frequent (80-99%)HP:0012086

Ataxia

Very frequent (80-99%)HP:0001251

Cutaneous photosensitivity

Very frequent (80-99%)HP:0000992

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Excessive, persistent worry and fear

Very frequent (80-99%)HP:0000739

Increased reflexes

Very frequent (80-99%)HP:0001347

Intermittent migraine headaches

Very frequent (80-99%)HP:0002076

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Neutral hyperaminoaciduria

Very frequent (80-99%)HP:0008353

Sensory hallucination

Very frequent (80-99%)HP:0000738

Abnormality of vision

Frequent (30-79%)HP:0000504

Elevated urinary indican level

Frequent (30-79%)HP:6000130

Intestinal malabsorption

Frequent (30-79%)HP:0002024

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Photophobia

Frequent (30-79%)HP:0000613

Skin rash

Frequent (30-79%)HP:0000988

Squint

Frequent (30-79%)HP:0000486

Tremor

Frequent (30-79%)HP:0001337

Abnormal blistering of the skin

Occasional (5-29%)HP:0008066

Brain inflammation

Occasional (5-29%)HP:0002383

Cognitive delay

Occasional (5-29%)HP:0001263

Decreased body height

Occasional (5-29%)HP:0004322

Dull intelligence

Occasional (5-29%)HP:0001249

Hypopigmented skin patches

Occasional (5-29%)HP:0001053

Inflammation of the tongue

Occasional (5-29%)HP:0000206

Related Conditions

Hartnup disorder, renal type(child)

Hartnup disorder, renal/jejunal type(child)

Specific renal tubule transport defect(parent)

Amino acid transport disorder(parent)

Metabolic renal disease(parent)

Quick Facts

SNOMED CT: 80902009
UMLS CUI: C0018609
Fully Specified Name: Neutral 1 amino acid transport defect (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.