Carnitine deficiency and l-carnitine supplementation in lysinuric protein intolerance

Tanner, Laura M.; Näntö‐Salonen, Kirsti; Rashed, Mohamed S.; Kotilainen, S.; Aalto, Maija; Venetoklis, Jaana; Niinikoski, Harri; Huoponen, Kirsi; Simell, Olli

doi:10.1016/j.metabol.2007.11.019

Cited by 17 publications

(8 citation statements)

References 37 publications

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“…Causes of acquired deficiency include poor dietary intake of carnitine, impaired absorption of dietary carnitine, decreased endogenous synthesis of carnitine, and increased renal losses of carnitine (Crill and Helms, 2007). Secondary carnitine deficiency has been reported in children with kwashiorkor and marasmus (Alp et al, 1999), celiac disease (Lerner et al, 1993), and lysinuric protein intolerance (Tanner et al, 2008). Secondary carnitine deficiency also occurs in children receiving renal or peritoneal dialysis (Sgambat and Moudgil, 2016, Naseri et al, 2016) or soy-protein-based formula lacking carnitine (Winter et al, 1987, Olson et al, 1989).…”

Section: Discussionmentioning

confidence: 99%

Environmental Enteric Dysfunction is Associated with Carnitine Deficiency and Altered Fatty Acid Oxidation

Semba

Trehan

et al. 2017

EBioMedicine

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BackgroundEnvironmental enteric dysfunction (EED), a condition characterized by small intestine inflammation and abnormal gut permeability, is widespread in children in developing countries and a major cause of growth failure. The pathophysiology of EED remains poorly understood.MethodsWe measured serum metabolites using liquid chromatography-tandem mass spectrometry in 400 children, aged 12–59 months, from rural Malawi. Gut permeability was assessed by the dual-sugar absorption test.Findings80.7% of children had EED. Of 677 serum metabolites measured, 21 were negatively associated and 56 were positively associated with gut permeability, using a false discovery rate approach (q < 0.05, p < 0.0095). Increased gut permeability was associated with elevated acylcarnitines, deoxycarnitine, fatty acid β-oxidation intermediates, fatty acid ω-oxidation products, odd-chain fatty acids, trimethylamine-N-oxide, cystathionine, and homocitrulline, and with lower citrulline, ornithine, polyphenol metabolites, hippurate, tryptophan, and indolelactate.InterpretationEED is a syndrome characterized by secondary carnitine deficiency, abnormal fatty acid oxidation, alterations in polyphenol and amino acid metabolites, and metabolic dysregulation of sulfur amino acids, tryptophan, and the urea cycle. Future studies are needed to corroborate the presence of secondary carnitine deficiency among children with EED and to understand how these metabolic derangements may negatively affect the growth and development of young children.

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Section: Discussionmentioning

confidence: 99%

Environmental Enteric Dysfunction is Associated with Carnitine Deficiency and Altered Fatty Acid Oxidation

Semba

Trehan

et al. 2017

EBioMedicine

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“…Reduced availability of lysine, an essential amino acid, probably has a prominent role in the poor growth and skeletal and immunological manifestations of the patients. Occasional patients have severe carnitine deficiency [56][57][58] that may be of dietary origin: the principal dietary source of carnitine is red meat, which is consumed in very small amounts by most patients with LPI. Chronic lysine deficiency may also limit endogenous carnitine biosynthesis.…”

Section: Metabolic Derangementmentioning

confidence: 99%

“…Carnitine supplementation (1 g/day) is indicated for the patients with carnitine deficiency [58]. Owing to their restricted diet, the patients need regular supplementation with calcium, vitamins and trace elements, and the involvement of an experienced nutritionist is essential.…”

Section: Treatment and Prognosismentioning

confidence: 99%

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

Näntö‐Salonen¹,

Niinikoski²,

Simell³

2012

Inborn Metabolic Diseases

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“…Lysinuric protein intolerance (LPI; OMIM #222700) is an autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids lysine, ornithine and arginine. In most cases, it is caused by pathogenic variants in SLC7A7 on chromosome 14 at locus 14q11.2 [2,21], although variants cannot be identified in this gene in 5-8% of cases [12,19]. SLC7A7 encodes the y + L amino acid transporter-1 (y + LAT-1), which is responsible for the transport of dibasic amino acids at the basolateral membrane of epithelial cells in the intestines and kidneys.…”

Section: Introductionmentioning

confidence: 99%

Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis

Alqarajeh

Omorodion

Bosfield

et al. 2020

TRD

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BACKGROUND: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids. It is caused by pathogenic variants in SLC7A7, resulting in impairment of intestinal import and renal proximal tubule loss of the affected amino acids. LPI typically presents with gastrointestinal symptoms, such as vomiting, diarrhea, and failure to thrive. CASE REPORT: A 4-year-old African-American boy presented with multiple respiratory tract infections, weight loss in the setting of chronic diarrhea and worsening abdominal distention, and multiple episodes of rectal prolapse. Development was unaffected. Laboratory examination demonstrated mild anemia, hypokalemia and hypoalbuminemia, transaminitis, and normal ammonia. Initial urine amino acid analysis did not show major elevations of lysine and ornithine, often lower than expected in the setting of malnutrition. Upon initiation of total parenteral nutrition (TPN), his urine amino acids showed a characteristic profile of dibasic aminoaciduria. CONCLUSIONS: Failure to thrive, chronic diarrhea, and hepatomegaly should raise suspicion for LPI. Urine amino acids can be normal in this condition in the setting of malnutrition, a common complication of the disease. Additionally, it has been previously shown that the plasma arginine and ornithine concentration is higher in LPI subjects.

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Carnitine deficiency and l-carnitine supplementation in lysinuric protein intolerance

Cited by 17 publications

References 37 publications

Environmental Enteric Dysfunction is Associated with Carnitine Deficiency and Altered Fatty Acid Oxidation

Environmental Enteric Dysfunction is Associated with Carnitine Deficiency and Altered Fatty Acid Oxidation

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

Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis

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