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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 COXPD10
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS
614702
OMIM = Online Medalian Inheritance of Men
314637
6q13
rare
autosomal recessive
mutation in the MTO1 gene
symptoms
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, hypertrophic
cognitive impairment
developmental delay
dystonia
early death
failure to thrive
feeding difficulties, poor feeding
hypoglycemia
hypotonia
lactic acidosis
low birthweight (small for gestational age)
metabolic acidosis
onset, neonatal
optic atrophy
seizures
small for gestational age (SGA), intrauterine growth retardation (IUGR)
speech development, delayed, abnormal
laboratory finding
L-Lactic acid increasedserum
Alanine increasedserum
Literature
Wens SC,et al.Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe DiseaseCirc Cardiovasc Genet916-132016
Llerena Junior JC,et al.Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe diseaseArq Neuropsiquiatr742166-1762016
Chan J,et al.The emerging phenotype of late-onset Pompe disease: A systematic literature reviewMol Genet Metab1203163-1722017
Bekircan-Kurt CE,et al.New mutations and genotype-phenotype correlation in late-onset Pompe patientsActa Neurol Belg1171269-2752017
Dasouki M,et al.Pompe disease: literature review and case seriesNeurol Clin323751-7762014
Boentert M,et al.Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe DiseaseInt J Mol Sci1710e17352016