Lysinuric protein intolerance: one gene, many problems

Bröer, Stefan

doi:10.1152/ajpcell.00166.2007

Cited by 27 publications

(17 citation statements)

References 23 publications

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“…In humans with LPI, intrauterine growth appears to be normal and growth failure is a postnatal phenomenon. The infants thrive as long as they are breastfed (Simell et al 1975), whereas in mice the growth is retarded already in utero (Bröer 2007). In keeping with this, the LPI children in our study did not express intrauterine growth restriction, since their birth lengths varied between 48 and 52 cm and weights between 2,980 and 4,020 g.…”

Section: Discussionsupporting

confidence: 81%

Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance

et al. 2011

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Background: Lysinuric protein intolerance (LPI) is an autosomal recessive cationic amino acid transport defect characterized by episodes of postprandial hyperammonemias and spontaneous protein aversion. Subnormal growth is common in spite of appropriate nutritional therapy. Growth hormone (GH) therapy promotes appetite, protein synthesis and accretion, but its possible growth-promoting effects and safety in patients with LPI are poorly known.Methods: Four LPI children aged 7-16 years were treated with GH for a period of 3-4.5 years. Dietary intakes and plasma amino acid levels were analyzed frequently in addition to routine monitoring of GH therapy.Results: Insulin-like growth factor-1 concentration was low and bone age was delayed in all LPI patients, but GH provocative test was pathological in only one of the patients. During the 3-4.5 years of GH therapy (dose 0.035-0.050 mg/kg/day), bone age did not catch up but height standard deviation score (SDS) improved by 0.7-1.8 SDS. There were no episodes of hyperammonemias.Conclusions: Our data support safety and growth-promoting potential of long-term GH therapy in patients with LPI.

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Section: Discussionsupporting

confidence: 81%

Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance

et al. 2011

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“…Lysinuric protein intolerance is diagnosed by the presence of excessive amounts of dibasic amino acids (arginine, lysine, ornithine) in the urine, particularly after protein ingestion, and/or mutation of SLC7A7 [86,87]. The treatment is based on a low protein diet and oral supplementation with citrulline.…”

Section: Lysinuric Protein Intolerancementioning

confidence: 99%

Pulmonary alveolar proteinosis

Borie¹,

Danel²,

Mp³

et al. 2011

Eur Respir Rev

244

258

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Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease characterised by alveolar accumulation of surfactant. It may result from mutations in surfactant proteins or granulocyte macrophage-colony stimulating factor (GM-CSF) receptor genes, it may be secondary to toxic inhalation or haematological disorders, or it may be auto-immune, with anti-GM-CSF antibodies blocking activation of alveolar macrophages. Auto-immune alveolar proteinosis is the most frequent form of PAP, representing 90% of cases. Although not specific, high-resolution computed tomography shows a characteristic ''crazy paving'' pattern. In most cases, bronchoalveolar lavage findings establish the diagnosis. Whole lung lavage is the most effective therapy, especially for auto-immune disease. Novel therapies targeting alveolar macrophages (recombinant GM-CSF therapy) or anti-GM-CSF antibodies (rituximab and plasmapheresis) are being investigated. Our knowledge of the pathophysiology of PAP has improved in the past 20 yrs, but therapy for PAP still needs improvement.

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“…Why this specific aminoaciduria presents as a multisystemic disorder with hallmarks of an urea cycle defect and immunological involvement is still a matter of debate. 29 Elevations of urinary dibasic amino acids, lysine, arginine, and ornithine are diagnostic and more pronounced than in cystinuria; urinary cystine levels in contrast to cystinuria are almost normal (elevated only up to about 2-3 times the norm). In contrast to cystinuria, plasma levels of lysine, arginine, and ornithine tend to be below the norm.…”

Section: Lysinuric Protein Intolerance (Omim #222700) Clinical Findingsmentioning

confidence: 99%

“…Some of the unique immunological features of this disease are most probably related to the expression profile of SLC7A7 (y þ LAT1), which is much broader than that of SLC3A1/SLC7A9 (rBAT/b 0, þ AT). 29 A mouse model, generated by inactivation of Slc7a7, displayed intrauterine growth retardation with only two animals surviving the neonatal period. These two surviving knockout mice were maintained on a low-protein diet and citrulline supplementation, and when introduced to a high-protein diet displayed a metabolic dysfunction almost identical to that observed in the human syndrome.…”

Section: Physiology and Molecular Geneticsmentioning

confidence: 99%

Aminoacidurias: Clinical and molecular aspects

Camargo

Böckenhauer

Kleta

2008

Kidney International

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Inherited aminoacidurias are caused by defective amino-acid transport through renal (reabsorption) and in many cases also small intestinal epithelia (absorption). Recently, many of the genes causing this abnormal transport have been molecularly identified. In this review, we summarize the latest findings in the clinical and molecular aspects concerning the principal aminoacidurias, cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. Signs, symptoms, diagnosis, treatment, causative or candidate genes, functional characterization of the encoded transporters, and animal models are discussed.

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Lysinuric protein intolerance: one gene, many problems

Cited by 27 publications

References 23 publications

Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance

Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance

Pulmonary alveolar proteinosis

Aminoacidurias: Clinical and molecular aspects

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