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Summary
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (MMDS4)
616370
OMIM = Online Medalian Inheritance of Men
457406
14q24.3
very rare
autosomal recessive
mutation in the ISCA2 gene
symptoms
blindness, visual loss, visual impairment
early death
hyperreflexia
hypertonia, spasticity
hypotonia
leukodystrophy
nystagmus
onset, infancy
periventricular white matter changes
speech development, delayed, abnormal
laboratory finding
Glycine +€mol/lcerebrospinal fluid
Glutamate +€mol/lcerebrospinal fluid
L-Lactic acid mmol/lcerebrospinal fluid
MRI, brain, abnormalities -
Glycine +€mol/lplasma
Literature
Saraff V,et al.A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities: Lessons Learned from Laboratory Screening for HypophosphatasiaJ Pediatr1720181-1862016
Arranz JA,et al.Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infantsClin Chem457995-10011999
Bayram E,et al.Molybdenum cofactor deficiency: review of 12 cases (MoCD and review)Eur J Paediatr Neurol1711-62013
Gruenewald S,et al.How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?J Inherit Metab Dis272179-1862004
Saneto RPAlpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamJ Multidiscip Healthc90323-3332016
Wevers RA,et al.Standardized method for high-resolution 1H-NMR of cerebrospinal fluidClin Chem4157441995
Saneto RP,et al.Alpers-Huttenlocher syndromePediatr Neurol483167-1782013