title: [COMPARISON OF FREE CARNITINE LEVELS WITH NUTRITIONAL STATUS IN INFANTILE NEPHROPATHYC CISTINOSIS PATIENTS].
abstract: BACKGROUND
  infantile nephropathic cystinosis (INC) is an autosomal recessive disorder that causes defects in cystine transport with subsequent accumulation in almost all body tissues, especially kidneys. There are few studies regarding the nutritional status assessment of patients with INC. It has been reported that patients with INC showed increased urinary losses of carnitine, resulting in plasma and muscle carnitine deficiency also increased metabolic requirements of carnitine in this patients have also been proposed, but to date carnitine supplementation is controversial.
  
  
  OBJECTIVE
  the aim of this study was to compare carnitine blood concentrations with nutritional status assessed by three anthropometric parameters: body mass index, mid-upper arm circumference and tricipital skin fold in patients with INC.
  
  
  METHODS
  anthropometric assessment of 10 patients with INC which included measurement of weight, height, mid-upper arm circumference and tricipital skin fold thickness. Free carnitine (C0) was measured by tandem mass spectrometry in fasting blood samples.
  
  
  RESULTS
  a total of 10 patients with INC were analyzed, 5 with and 5 without renal graft. According to the body mass index, 3/10 presented malnutrition. Muscular mass was found low in 8/10 patients (3 without renal graft and all the transplanted) the mid-upper arm circumference showed correlation with C0 blood concentrations (r2 = 0.353); non transplanted patients had C0 levels significantly lower than the transplanted ones (Chi2 = 0.0027).
  
  
  CONCLUSIONS
  in this study we found that 70% of patients had low C0 blood levels that had a correlation with depleted lean body mass. It is recommendable to evaluate the nutritional status of these patients as part of their routine medical evaluation.
authors.affiliation: Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud.. dravelaamieva@yahoo.com.
authors.forename: Sara
authors.initials: S
authors.lastname: Guillén-López
authors.affiliation: Instituto de Investigaciones Biomédicas, UNAM.. dravelaamieva@yahoo.com.
authors.forename: Isabel
authors.initials: I
authors.lastname: Ibarra-González
authors.affiliation: Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud.. dravelaamieva@yahoo.com.
authors.forename: Leticia
authors.initials: L
authors.lastname: Belmont Martínez
authors.affiliation: Centro Interdisciplinario de Ciencias de la Salud, Unidad Milpa Alta, Instituto Politécnico Nacional, México.. dravelaamieva@yahoo.com.
authors.forename: Merit Valeria
authors.initials: MV
authors.lastname: Juárez-Cruz
authors.affiliation: Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud.. dravelaamieva@yahoo.com.
authors.forename: Marcela
authors.initials: M
authors.lastname: Vela-Amieva
mesh_terms: D000293:Adolescent; D000328:Adult; D015992:Body Mass Index; D002331:Carnitine / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D003554:Cystinosis / Q000097:blood* / Q000601:surgery; D005260:Female; D006801:Humans; D007677:Kidney Function Tests; D016030:Kidney Transplantation; D008297:Male; D008875:Middle Aged; D009752:Nutritional Status; D012885:Skinfold Thickness; D055815:Young Adult
chemical_list: D002331:Carnitine