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Summary
LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY LSMFLAD
255100
OMIM = Online Medalian Inheritance of Men
1q21.3
rare
autosomal recessive
mutation in the FLAD1 gene
FLAD1 variants as a cause of potentially treatable inborn errors of metabolism manifesting with MADD [Olsen RKJ et al. 2016]
symptoms
cardiac arrest
cardiomyopathy
cataract
early death
exercise intolerance
feeding difficulties, poor feeding
gait disturbance
hypotonia
infections (severe or recurrent)
muscle weakness
myopathy
onset, adulthood
onset, infancy
respiratory insufficiency
scoliosis
speech difficulties
swallowing difficulties
tachykardia, paroxysmal
laboratory finding
Hexanoylglycine normal-increasedurine
Acylcarnitine increasedurine
Creatine kinase increasedserum
Adipic acid normal-increasedurine
Ethylmalonic acid increasedurine
Tiglylglycine normal-increasedurine
Methylsuccinic acid normal-increasedurine
Suberic acid normal-increasedurine
Literature
Choi R,et al.Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease IbAnn Lab Med373261-2662017
Oguz MM,et al.Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient.Genet Couns254389-39742014
Baertling F,et al.Liver cirrhosis in glycogen storage disease IbMol Genet Metab1083198-2002013
Spiegel R,et al.The variable clinical phenotype of liver glycogen synthase deficiencyJ Pediatr Endocrinol Metab20121339-13422007
Duarte IF,et al.Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution (1)H NMR spectroscopyNMR Biomed2047401-4122007