The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile.
BMC Med Genet
; 15: 75, 2014 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-24986124
ABSTRACT
BACKGROUND:
Carnitine is a key molecule in energy metabolism that helps transport activated fatty acids into the mitochondria. Its homeostasis is achieved through oral intake, renal reabsorption and de novo biosynthesis. Unlike dietary intake and renal reabsorption, the importance of de novo biosynthesis pathway in carnitine homeostasis remains unclear, due to lack of animal models and description of a single patient defective in this pathway. CASE PRESENTATION We identified by array comparative genomic hybridization a 42 months-old girl homozygote for a 221 Kb interstitial deletions at 11p14.2, that overlaps the genes encoding Fibin and butyrobetaine-gamma 2-oxoglutarate dioxygenase 1 (BBOX1), an enzyme essential for the biosynthesis of carnitine de novo. She presented microcephaly, speech delay, growth retardation and minor facial anomalies. The levels of almost all evaluated metabolites were normal. Her serum level of free carnitine was at the lower limit of the reference range, while her acylcarnitine to free carnitine ratio was normal.CONCLUSIONS:
We present an individual with a completely defective carnitine de novo biosynthesis. This condition results in mildly decreased free carnitine level, but not in clinical manifestations characteristic of carnitine deficiency disorders, suggesting that dietary carnitine intake and renal reabsorption are sufficient to carnitine homeostasis. Our results also demonstrate that haploinsufficiency of BBOX1 and/or Fibin is not associated with Primrose syndrome as previously suggested.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 11
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Carnitina
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Proteínas de Transporte
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Deleção Cromossômica
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Gama-Butirobetaína Dioxigenase
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Proteínas de Membrana
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article