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MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (MOCODC)

MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C (MOCODC)
MOLYBDENUM COFACTOR DEFICIENCY C
615501
OMIM = Online Mendelian Inheritance of Men
308400
Gephyrin
14q23.3-q24.1
E72.1
rare
autosomal recessive
mutation in the GPHN gene
Laboratory findingsUrothione normal/inc (urine)
Xanthine inc (urine)
    alpha-Aminoadipic semialdehyde inc (urine)
    alpha-Aminoadipic semialdehyde inc (cerebrospinal fluid)
    Cystine dec (plasma)
    Homocysteine dec (plasma)
    S-Sulfocysteine inc (urine)
    S-Sulfocysteine inc (plasma)
    Sulfite inc (urine)
    Taurine inc (plasma)
    Taurine inc (urine)
    Uric acid dec (urine)
    Xanthine inc (plasma)
Symptoms   live threatening illness
    altered consciousness, consciousness disturbance
    apnea
    cerebellar atrophy or hypoplasia
    cerebral atrophy
    developmental delay
    dislocated lens (ectopia lentis)
    dysmorphism
    early death
    feeding difficulties, poor feeding
    hyperekplexia
    hyperreflexia
    hypotension
    hypotonia
    microcephaly (<2 SD for age)
    MRI, brain, abnormalities [-]
    onset, adolescent
    onset, childhood
    onset, infancy
    onset, neonatal
    seizures
    seizures, tonic clonic
    spastic diplegia/quadriplegia/tetraplegia
    tremor or twitching
    urolithiasis, nephrolithiasis, kidney stones
    white matter changes, abnormalities