Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder

Näntö‐Salonen, Kirsti; Niinikoski, Harri; Simell, Olli

doi:10.1007/978-3-642-15720-2_26

Cited by 3 publications

(8 citation statements)

References 78 publications

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“…LPI is relatively common in Finland, with a prevalence of 1/60,000. It is also found in Southern Italy, Northern Japan and sporadically all over the world [2][3][4][5]. It is caused by mutations in the SLC7A7 gene, which encodes the yþLAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family [1][2][3][4].…”

Section: Discussionmentioning

confidence: 99%

“…It is caused by mutations in the SLC7A7 gene, which encodes the yþLAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family [1][2][3][4]. The reduced activity of the transporter (SLC7A7) leads to reduced absorption of arginine, ornithine and lysine in the kidney and intestine [5,6].…”

Section: Discussionmentioning

confidence: 99%

“…LPI is a multi organ disease with a variety of clinical symptoms. Protein malnutrition and lysine deficiency contribute to the patient's failure to thrive, as deficiency of arginine and ornithine result in dysfunction of the urea cycle with resultant hyperammonaemia and its developmental sequelae [2,5]. On weaning, patients usually display an aversion to high-protein foods and show delayed bone growth, osteoporosis, hepatosplenomegaly and muscle hypotonia [2,4,5].…”

Section: Discussionmentioning

confidence: 99%

“…Immune dysfunction attributable to nitric oxide (NO) overproduction secondary to intracellular trapping of arginine (due to defective efflux from the cell) is also a major feature. This may be a crucial Pathophysiological explanation for many LPI complications including severe lung disease with pulmonary alveolar proteinosis, renal disease, hemophagocytic lymphohistiocytosis (HLH) with subsequent activation of macrophages (MAS), various auto-immune disorders and an incompletely characterized immune deficiency [2,3,5,8]. The index case experienced pneumonia at a young age and frequent respiratory tract infections.…”

Section: Discussionmentioning

confidence: 99%

“…The diagnosis of LPI is based on the combination of increased urinary excretion and low plasma concentrations of the cationic amino acids [2,5,6]. It is vital that both urine & plasma amino acids are quantitated so as not to miss the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

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Lysinuric Protein Intolerance: A Treatable Cause of Developmental Delay with Multiple Complications

Sh¹

2016

PNBOA

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Background: Lysinuric protein intolerance (LPI) is a multi systemic disease with a variety of clinical symptoms. Early and aggressive treatment can significantly reduce the number of hyperammonaemic episodes and prevent mental disability. Case series: We report a case series from two siblings with LPI: The eldest boy presented at three and a half years of age with short stature, global developmental delay & a history of recurrent infections. His younger brother was identified in the newborn period with lethargy and weight loss. Basic metabolic screening showed hyperammonaemia, gross urinary excretion of lysine & to a lesser degree increased excretion of arginine, ornithine and orotic acid. Plasma amino acids showed either low or low normal lysine, arginine and ornithine. Results: Both cases were treated with protein restriction, nitrogen scavengers, citrulline and L-carnitine. They were provided with an appropriate oral and intravenous emergency regimen for use when unwell. At the last follow-up the eldest boy showed a marked improvement in his development, whilst the youngest infant has normal physical & mental development for age. Conclusions: Marked improvement in LPI patients can be achieved by strict diet and medication with early identification & treatment likely to lead to the best possible intellectual outcomes. .

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Lysinuric Protein Intolerance: A Treatable Cause of Developmental Delay with Multiple Complications

Sh¹

2016

PNBOA

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Combining field effect scanning electron microscopy, deep UV fluorescence, Raman, classical and synchrotron radiation Fourier transform Infra-Red Spectroscopy in the study of crystal-containing kidney biopsies

Bazin

Jouanneau

Bertazzo

et al. 2015

Comptes Rendus. Chimie

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International audienceCrystal formation in kidney tissue is increasingly recognized as a major cause of severe or acute renal failure. Kidney biopsies are currently performed and analyzed using different staining procedures. Unfortunately, none of these techniques are able to distinguish the different Ca phosphates (e.g., amorphous or nanostructured Ca phosphate apatite, octacalcium phosphate, brushite…) or Ca oxalates (whewellite and weddellite). Moreover, the crystal’s morphology, a structural parameter proven as a major information to the clinician regarding kidney stones, is not taken into account. Such major limitations call for a different research approach, based on physicochemical techniques. Here we propose classical observations through field-emission scanning electron microscopy experiments combined with energy dispersive spectroscopy as well as measurements through Raman and μFourier transform Infra-Red Spectroscopy. If necessary, in the case of microcrystals, observations using cutting edge technology such as Synchrotron Radiation (SR) – FTIR or SR-UV visible spectroscopy can be subsequently performed on the same sample. Taken together this set of diagnostic tools will help clinicians gather information regarding the nature and the spatial distribution at the subcellular scale of different chemical phases present in kidney biopsies as well as on the crystal morphology and therefore obtain more precise diagnosis

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Pruebas bioquímicas para la detección de metabolitos producidos en los Errores Innatos del Metabolismo

Regina

Carmona

Herrera

2014

Iatreia

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Los errores innatos del metabolismo (EIM) son más de 550 enfermedades en las que se presenta una deficiencia o ausencia de proteínas con actividad enzimática, transportadora, receptora o estructural. Cada una de estas enfermedades es rara, pero su gran variedad hace que, consideradas en conjunto, sean la principal patología neonatal. Para la detección de los metabolitos producidos en los EIM se pueden utilizar pruebas cualitativas. Su utilidad radica en que son muy rápidas y de fácil acceso, y en que sirven como pruebas presuntivas para proceder a hacer exámenes más especializados o para enfocar el diagnóstico. Teniendo en cuenta su importancia para un diagnóstico temprano de los EIM, el objetivo del presente artículo es describir el funcionamiento de las pruebas bioquímicas de resorcinol, dinitrofenilhidrazina, nitrosonaftol, nitroprusiato y Hoesch, haciendo énfasis en los metabolitos que detectan.

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Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder

Cited by 3 publications

References 78 publications

Lysinuric Protein Intolerance: A Treatable Cause of Developmental Delay with Multiple Complications

Lysinuric Protein Intolerance: A Treatable Cause of Developmental Delay with Multiple Complications

Combining field effect scanning electron microscopy, deep UV fluorescence, Raman, classical and synchrotron radiation Fourier transform Infra-Red Spectroscopy in the study of crystal-containing kidney biopsies

Pruebas bioquímicas para la detección de metabolitos producidos en los Errores Innatos del Metabolismo

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