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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 COXPD37
618329
OMIM = Online Medalian Inheritance of Men
67047
19p13.3
very rare
autosomal recessive
mutation in the MICOS13 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
Coagulopathy/Coagulation factors
decreased spontaneous movements
developmental delay
early death
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
hyperreflexia
hypertonia, spasticity
hypoglycemia
hypothermia
hypotonia
lactic acidosis
liver involvement or dysfunction
microcephaly (<2 SD for age)
onset, infancy
onset, neonatal
retinal or macular degeneration
seizures
laboratory finding
L-Lactic acid mmol/lserum
Alanine +€mol/lplasma
Transaminases U/lserum
3-Methylglutaconic acid mmol/mol Creaurine
Literature
Shimohata H,et al.A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry CellsIntern Med55233475-34782016
Vogel KR,et al.Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategiesJ Inherit Metab Dis002018
Shimohata H,et al.Urinary mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry diseaseCEN Case Rep62148-1512017