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Summary
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (MOCODB)
MOLYBDENUM COFACTOR DEFICIENCY B
252160
OMIM = Online Medalian Inheritance of Men
833
5q11.2
rare
autosomal recessive
mutation in the MOCS2 gene
symptoms
apnea
blindness, visual loss, visual impairment
cerebral atrophy
dysmorphism
feeding difficulties, poor feeding
growth retardation, poor growth
hypotension
hypotonia
macrocephaly (large calvaria, >2 SD for age)
microcephaly (<2 SD for age)
myoclonus
nystagmus
onset, childhood
onset, infancy
onset, neonatal
seizures
spastic diplegia/quadriplegia/tetraplegia
urolithiasis, kidney stones
white matter changes, abnormalities
laboratory finding
Urothione + mmol/mol creatinineurine
Cystine +€mol/lplasma
Homocysteine +€mol/lplasma
S-Sulfocysteine mmol/mol creatinineurine
S-Sulfocysteine amniocytes
S-Sulfocysteine +€mol/lplasma
Sulfite positiveurine
Taurine mmol/mol Creaurine
Taurine +€mol/lplasma
Xanthine mmol/mol Creaurine
Xanthine +€mol/lplasma
Hypoxanthine mmol/mol creatinineurine
Literature
Liu PCet al.Downregulation of myelination, energy, and translational genes in Menkes disease brainMol Genet Metab002005
Swanson MA,et al.d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrenceMol Genet Metab121280-822017
Korkut S,et al.Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two NeonatesJ Clin Res Pediatr Endocrinol84468-4712016