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Summary
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (MOCODC)
MOLYBDENUM COFACTOR DEFICIENCY C
615501
OMIM = Online Medalian Inheritance of Men
308400
14q23.3-q24.1
rare
autosomal recessive
mutation in the GPHN gene
symptoms
apnea
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental delay
dislocated lens (ectopia lentis)
dysmorphism
early death
feeding difficulties, poor feeding
hyperreflexia
hypotension
hypotonia
microcephaly (<2 SD for age)
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
seizures
spastic diplegia/quadriplegia/tetraplegia
tremor or twitching
urolithiasis, kidney stones
white matter changes, abnormalities
laboratory finding
Uric acid +€mol/lurine
Cystine +€mol/lplasma
Homocysteine +€mol/lplasma
S-Sulfocysteine mmol/mol creatinineurine
S-Sulfocysteine +€mol/lplasma
Sulfite positiveurine
Taurine mmol/mol Creaurine
Taurine +€mol/lplasma
Urothione + mmol/mol creatinineurine
Xanthine mmol/mol Creaurine
Xanthine +€mol/lplasma
MRI, brain, abnormalities -
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