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HOMOCARNOSINOSIS

HOMOCARNOSINOSIS
236130
OMIM = Online Mendelian Inheritance of Men
2168
E72.8
very rare
autosomal recessive
Serum carnosinase deficiency and homocarnosinosis are probably the same disorder.
Homocarnosinosis is still a biochemical aberration with unknown clinical significance [Sjasstad O et al., 2018]
Laboratory findings    Homocarnosine inc (cerebrospinal fluid)
Symptoms    hypotonia
    mental retardation
    onset, childhood
    onset, infancy
    retinitis pigmentosa
    spastic diplegia/quadriplegia/tetraplegia