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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) MTDPS13
615471
OMIM = Online Medalian Inheritance of Men
369897
6q16.1-q16.2
very rare (< 100 patients)
autosomal recessive
mutation in the FBXL4 gene
symptoms
ataxia
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, hypertrophic
cataract
cerebellar atrophy or hypoplasia
cerebral atrophy
colitis or enterocolitis
developmental delay
dysmorphism
dysphagia
dystonia
encephalopathy
failure to thrive
growth retardation, poor growth
hyperammonemia
hypotonia
infections (severe or recurrent)
intellectual disability/intellectual developmental disorder (ID/ IDD)
lactic acidosis
leukodystrophy
microcephaly (<2 SD for age)
muscle atrophy
neutropenia (decreased neutrophils)
nystagmus
onset, childhood
onset, infancy
onset, neonatal
seizures
small for gestational age (SGA), intrauterine growth retardation (IUGR)
weight loss
white matter changes, abnormalities
laboratory finding
L-Lactic acid6.0023.00 mmol/lserum
Alanine350.00580.00 +€mol/lplasma
Ammonia36.00166.00 +€mol/lserum
MRI, brain, abnormalities -
Transaminases U/lserum
Creatine kinase25.002000.00 U/lserum
L-Lysine66.00628.00 +€mol/lplasma
Literature
Manning MA,etv al.Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature reviewAm J Med Genet A1253240-25492004
Dierks T,et al.Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteinsBiochim Biophys Acta17934710-7252009
Nur BG,et al.Neonatal multiple sulfatase deficiency with a novel mutation and review of the literatureTurk J Pediatr564418-4222014
Dierks T,et al.Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteinsBiochim Biophys Acta17934710-7252009
Desbats MA,et al.Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiencyJ Inherit Metab Dis381145-1562015
Busche A,et al.Neonatal manifestation of multiple sulfatase deficiencyEur J Pediatr1688969-97362009
Cao Q,et al.Coenzyme Q(10) treatment for one child with COQ6 gene mutation induced nephrotic syndrome and literature reviewZhonghua Er Ke Za Zhi552135-1382017
Dierks T,et al.Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteinsBiochim Biophys Acta17934710-7252009
Desbats MA,et al.Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiencyJ Inherit Metab Dis381145-1562015
Desbats MA,et al.Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiencyJ Inherit Metab Dis381145-1562015