HUMAN BIOCHEMICAL GENETICS

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1. Members of the Section continue to care for 80 cystinosis patients who are offered therapy with cysteamine or phosphocysteamine. In pre- transplant patients, this has maintained renal function, assisted growth, and affected parenchymal organ cystine depletion. Early therapy with cysteamine allows for growth of renal function in the first 3 years of life, meaning that some well-treated patients may never require a renal transplant. Work proceeds to New Drug Approval. Cysteamine eyedrops (0.5%) have dissolved corneal cystine crystals in young children and removed the haziness from the eyes of older children, with relief of photophobia. A distal vacuolar myopathy has been described in older, post-transplant cystinosis patients. 2. Eleven patients with Menkes' disease have been enrolled in a protocol involving subcutaneously administered copper histidine. Seizure control has improved in two patients, and baseline plasma and CSF neurotransmitter levels have been documented. 3. The second American patient with Indian Childhood Cirrhosis (IC) has ben reported. Metallothionein synthesis by ICC fibroblasts, as well as metallothionein IIA mRNA, has been shown to be reduced. Fibroblasts provide a good model system in which to study the basic defect in ICC. 4. A new disorder of carbohydrate metabolism characterized by developmental delay, dysostosis multiplex, and coarse facies, has been described. Urinary oligosaccharide analysis reveals a tetrasaccharide containing N-acetylglucosamine, N-acetylgalactosamine, fucose, and galactose.