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HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY (MTHFR)

HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY (MTHFR)
MTHFR DEFICIENCY
236250
OMIM = Online Mendelian Inheritance of Men
395
N(5,10) methylenetetrahydrofolate reductase
1.5.1.20
1p36.22
E72.1
rare (>170 cases)
autosomal recessive
mutation in the MTHFR gene
one turkish patient known to the authors (unpublished) with paraplegia, mental retardation and typical laboratory findings
Laboratory findingsBetaine normal/inc (urine)
Homocysteine inc (plasma)
Methionine normal/dec (plasma)
   5-Hydroxyindolacetic acid (5-HIAA) n/d (cerebrospinal fluid)
   5-Methyltetrahydrofolate (5-MTHF) dec (cerebrospinal fluid)
   Homovanillic acid (HVA) n/d (cerebrospinal fluid)
    5,10-Methylenetetrahydrofolate reductase dec (liver)
    5,10-Methylenetetrahydrofolate reductase dec (fibroblasts)
    L-Homocystine inc (urine)
    L-Homocystine inc (plasma)
Symptomsmental retardation
   ataxia
   behavior, abnormal or bizarre, confusion
   depression
   developmental regression
   encephalopathy
   gait disturbance
   hydrocephalus
   intellectual disability/intellectual developmental disorder
   microcephaly (<2 SD for age)
   MRI, brain, abnormalities [-]
   muscle weakness
   myopathy
   peripheral neuropathy
   psychosis
   seizures
   seizures, myoclonic
   thromboembolism
    dislocated lens (ectopia lentis)
    early death
    EEG abnormalities [-]
    feeding difficulties, poor feeding
    movement disorder, hyperkinetic
    MRI, brain, white matter abnormalities [-]
    onset, adolescent
    onset, adulthood
    onset, childhood
    onset, infancy
    onset, neonatal
    paraparesis/paraplegia
    paresis
    periventricular white matter changes
    tachypnea, hyperpnea, dyspnea, hyperventilation