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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 COXPD11
ENCEPHALONEUROMYOPATHY, INFANTILE, DUE TO MITOCHONDRIAL TRANSLATION DEFECT
614922
OMIM = Online Medalian Inheritance of Men
324435
6q25.1
rare
autosomal recessive
mutation in the RMND1 gene
symptoms
areflexia
cardiac involvement, cardiac defects
cardiomyopathy
cardiomyopathy, dilated
cortical or cerebral atrophy
developmental delay
early death
encephalopathy
fasciculations
feeding difficulties, poor feeding
hearing defect, deafness
hepatomegaly (large liver)
hyporeflexia
hypotonia
kidney, dysplastic, hypoplastic
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
liver involvement or dysfunction
microcephaly (<2 SD for age)
myelination, incomplete, hypomyelination
myoclonus
myopathy
onset, infancy
onset, neonatal
peripheral neuropathy
renal failure, acute/chronic
renal tubular acidosis
respiratory insufficiency
speech development, delayed, abnormal
laboratory finding
Lactic acid mmol/lcerebrospinal fluid
Lactic acid3.00 mmol/lplasma
Literature
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Bishay RH,Greenfield JRA review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODYMed J Aust20510480-4852016
Su L,et al.Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.Metab Brain Dis323765-7722017
Bishay RH,Greenfield JRA review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODYMed J Aust20510480-4852016
Caetano LA,et al.PDX1-MODY and dorsal pancreatic agenesis: new phenotype of a rare diseaseClin Genet002017
Bishay RH,Greenfield JRA review of maturity onset diabetes of the young (MODY) and challenges in the management of glucokinase-MODYMed J Aust20510480-4852016
Mangrum C,Rush E, Shivaswamy VGenetically Targeted Dipeptidyl Peptidase-4 Inhibitor Use in a Patient with a Novel Mutation of MODY type 4Clin Med Insights Endocrinol Diabetes8083-862015
Malfatti E,et al.A new muscle glycogen storage disease associated with glycogenin-1 deficiencyAnn Neurol766891-8982014
Wang X,et al.Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 geneStem Cell Res172292-2952016
Fernandez-Zapico ME,et al.MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cellsJ Biol Chem2845236482-902009