Lowe syndrome. Oculocerebrorenal syndrome
Incidence
Rare. It is a sex-linked recessive disorder. Gene located in the long arm of X chromosome. Aminoacid membrane transport defect. Approx. 100 cases were known to exist in USA up to 1991.
Clinical Characteristics
Severe mental retardation, myopathy, cataracts, congenital glaucoma, generalized aminoaciduria Fanconi type, Renal tubular acidosis (RTA), hypophosphatemic ricketts. Developmental delay, hypotonia, arreflexia, peripheral neuropathy. Growth retardation (FTT), nystagmus, poor vision (legally blind)
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
GC/MS in urine