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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT MTDPS12A
617184
OMIM = Online Medalian Inheritance of Men
4q35.1
rare
autosomal dominant
mutation in the SLC25A4 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
defect of walking, running, rising or climbing
early death
feeding difficulties, poor feeding
hyporeflexia
hypotonia
lactic acidosis
muscle weakness
onset, neonatal
respiratory insufficiency
laboratory finding
L-Lactic acid mmol/lblood
L-Lactic acid mmol/lcerebrospinal fluid
Literature
Shimada T,et al.Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVBJIMD Rep2101-132015
Brunetti-Pierri N,etal.Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturaseAm J Hum Genet714952-9582002
Shimada T,et al.Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVBJIMD Rep2101-132015
de Koning TJAmino acid synthesis deficienciesJ Inherit Metab Dis404609-6202017