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Summary
NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (NLSDM)
NEUTRAL LIPID STORAGE DISEASE WITHOUT ICHTHYOSIS
610717
OMIM = Online Medalian Inheritance of Men
98908
11p15.5
rare
autosomal recessive
mutation in the PNPLA2 gene
symptoms
areflexia
cardiac arrhythmia, dysrhythmia
cardiomyopathy
defect of walking, running, rising or climbing
diabetes mellitus
exercise intolerance
fasciculations
hearing defect, deafness
hepatomegaly (large liver)
hypotonia
muscle cramps
muscle weakness
myopathy
onset, adolescent
onset, childhood
pain, muscle
rhabdomyolysis
short stature
laboratory finding
Creatine kinase200.005000.00 U/lserum
Triglycerides40.00240.00 mg/dlserum
Literature
Jusufi J,et al.Characterization of functional domains of the cblD (MMADHC) gene productJ Inherit Metab Dis375841-8492014
Parini R,et al.Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD DefectJIMD Rep110133-1372013
Schweinberger BM,Wyse ATMechanistic basis of hypermethioninemiaAmino Acids48112479-24892016
van Rappard DF,Boelens JJ, Wolf NIMetachromatic leukodystrophy: Disease spectrum and approaches for treatmentBest Pract Res Clin Endocrinol Metab292261-2732015
Takeichi T,et al.Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ)Br J Dermatol17241111-11152015
Furujo M,et al.Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionineMol Genet Metab1073253-2562012
Nogueira C,et al.Molecular picture of cobalamin C/D defects before and after newborn screening eraJ Med Screen2416-112017
Chien YH,et al.Mudds disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesOrphanet J Rare Dis100992015
Stucki M,et al.Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolismHum Mol Genet2161410-14182012
Patil SA,Maegawa GHDeveloping therapeutic approaches for metachromatic leukodystrophyDrug Des Devel Ther70729-7452013