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MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (MOCODB)

MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B (MOCODB)
MOLYBDENUM COFACTOR DEFICIENCY B
252160
OMIM = Online Mendelian Inheritance of Men
833
Molybdopterin synthase sulfur carrier subunit; Molybdopterin synthase catalytic subunit
5q11.2
E72.1
rare
autosomal recessive
mutation in the MOCS2 gene
Laboratory findingsHypoxanthine inc (urine)
Pipecolic acid inc (cerebrospinal fluid)
S-Sulfocysteine inc (urine)
Urothione dec (urine)
   Trimethylamine inc (urine)
    alpha-Aminoadipic semialdehyde inc (cerebrospinal fluid)
    alpha-Aminoadipic semialdehyde inc (urine)
    Cystine dec (plasma)
    Homocysteine dec (plasma)
    S-Sulfocysteine inc (plasma)
    Sulfite inc (urine)
    Taurine inc (plasma)
    Taurine inc (urine)
    Uric acid dec (plasma)
    Xanthine inc (plasma)
    Xanthine inc (urine)
Symptoms   live threatening illness
    altered consciousness, consciousness disturbance
    apnea
    ataxia
    blindness, visual loss, visual impairment
    cerebral atrophy
    chorea or athetosis
    dislocated lens (ectopia lentis)
    dysmorphism
    dystonia
    feeding difficulties, poor feeding
    growth retardation, poor growth
    hyperekplexia
    hypotension
    hypotonia
    macrocephaly (large calvaria, >2 SD for age)
    microcephaly (<2 SD for age)
    myoclonus
    nystagmus
    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