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monocarboxylate transporter 8 deficiency (MCT8 deficiency)
Genetics:
- X-linked
- associated with defects in SLC16A2
Clinical manifestations:
- severe form of psychomotor retardation combined with hypothyroidism
- hypothyroidism can be caused by defects of hormone synthesis & action, but it has also been linked to a defect in cellular hormone transport
- affected patients are males
- severe neurological abnormalities, including
a) global developmental delay,
b) central hypotonia
c) spastic quadriplegia
d) dystonic movements
e) rotary nystagmus
f) impaired gaze & hearing
- heterozygous females had a milder thyroid phenotype & no neurological defects
Laboratory:
- thyroid function tests
- abnormal relative concentrations of 3 circulating iodothyronines
General
enzyme deficiency
X-linked disease
Database Correlations
OMIM 300523
References
OMIM :accession 300523