a) Growth and renal function and laboratory findings in the Oculocerebrorenal Syndrome of Lowe have been defined. b) Intellectual and behavioral profiles for males affected with OCRL find a wide range of intellectual outcomes, including normal verbal intelligence, but an apparently unique behavioral phenotype that interferes with adaptive functioning. c) Chronic cysteamine therapy lowers accumulation of muscle cystine in patients with cystinosis. d) A new complication of growth hormone therapy has been described. Laboratory Studies: The complete sequence of both forms of Xenopus low molecular weight neurofilament proteins (XNF-L) has been determined. The forms differ by rearrangement of repeated units in the poly glutamic acid rich region of the carboxy terminus tail of the molecule. Genomic clones for both XNF-L genes and for XNIF, a low molecular weight neuronal intermediate filament protein, have been isolated.
