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Summary
MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (LPIN1)
LPIN1 DEFICIENCY
268200
OMIM = Online Medalian Inheritance of Men
99845
2p25.1
rare
autosomal recessive
mutation in the LPIN1 gene
symptoms
hyporeflexia
muscle weakness
onset, childhood
pain, muscle
renal failure, acute/chronic
rhabdomyolysis
laboratory finding
Myoglobin increasedurine
Creatine kinase increasedserum
Literature
OShea CJ,et al.Neurocognitive phenotype of isolated methylmalonic acidemiaPediatrics12961541-15512012
Takahashi-Iniguez T,et al.Role of vitamin B12 on methylmalonyl-CoA mutase activityJ Zhejiang Univ Sci B136423-4372012
Melo DR,et al.Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemiaJ Bioenerg Biomembr43139-462011
Almaghlouth IA,et al.5-Oxoprolinase deficiency: report of the first human OPLAH mutation.Clin Genet822193-1962012
Coskun T,et al.3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizuresTurk J Pediatr516587-5922009