Robert Bucelli, MD, PhD A Novel LPIN1 Mutation Causing Recurrent Rhabdomyolysis in Childhood
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چکیده
Introduction: Anorexia and refusal to feed can be a management problem in a Traumatic Brain Injury (TBI) patient. Management issues gets complicated because of ethical dilemma of respecting patient autonomy versus difficulty in determining decision making capacity of brain injured patient. Can these symptoms be considered as forerunners of impending psychotic behavior is worth exploring.
منابع مشابه
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Autosomal recessive LPIN1 mutations have been recently described as a novel cause of rhabdomyolysis in a few families. The purpose of the study was to evaluate the prevalence of LPIN1 mutations in patients exhibiting severe episodes of rhabdomyolysis in infancy. After exclusion of primary fatty acid oxidation disorders, LPIN1 coding sequence was determined in genomic DNA and cDNA. Among the 29 ...
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1 These authors contributed equally to this work. Rhabdomyolysis (RM) is characterized by acute and often severe skeletal muscle damage resulting in myoglobinuria and, in severe cases, acute renal failure [1]. In adults is typically due to trauma, intoxication or infection, whereas in children is frequently associated with inherited muscle disorders [2]. LPIN1 mutations were identified as a cau...
متن کاملMolecular analysis of LPIN1 in Jordanian patients with rhabdomyolysis
Recessive mutations in LPIN1, which encodes a phosphatidate phosphatase enzyme, are a frequent cause of severe rhabdomyolysis in childhood. Hence, we sequenced the 19 coding exons of the gene in eight patients with recurrent hereditary myoglobinuria from four unrelated families in Jordan. The long-term goal is to facilitate molecular genetic diagnosis without the need for invasive procedures su...
متن کاملLPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy
Fatty acid oxidation disorders and lipin-1 deficiency are the commonest genetic causes of rhabdomyolysis in children. We describe a lipin-1-deficient boy with recurrent, severe rhabdomyolytic episodes from the age of 4 years. Analysis of the LPIN1 gene that encodes lipin-1 revealed a novel homozygous frameshift mutation in exon 9, c.1381delC (p.Leu461SerfsX47), and complete uniparental isodisom...
متن کاملNormal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations
Lipin-1 is a Mg2+-dependent phosphatidic acid phosphatase (PAP) that in mice is necessary for normal glycerolipid biosynthesis, controlling adipocyte metabolism, and adipogenic differentiation. Mice carrying inactivating mutations in the Lpin1 gene display the characteristic features of human familial lipodystrophy. Very little is known about the roles of lipin-1 in human adipocyte physiology. ...
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