HUMAN BIOCHEMICAL GENETICS

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l. 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 effected parenchymal organ cystine depletion. 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 ofphotophobia. 2. The fourth patient in the world has been described with sialuria, a defect in CMP-sialic acid inhibition of UDP N- acetylglucosamine 2- epimerase activity. 3. Eight patients with Menkes' disease have been enrolled in a protocol involving subcutaneously administered copper histidinate. Seizure control has improved in two patients, and baseline plasma and CSF neurotransmitter levels have been documented. 4. A cooper blotting technique has been employed to demonstrate that human manganese superoxide dismutase binds copper. The technique appears applicable for determining the copper-binding ability of other cellular proteins as well. 5. The electron dense intracellular aggregates of Indian Childhood Cirrhosis have been identified as copper sulfide, and the defect has been found to be expressed in cultured fibroblasts. The second American patient with this fatal liver disease has been reported. 6. Cordocentesis has provided fetal blood for comparison of fetal amino acid concentrations with maternal amino acid concentrations. A Fetal Concentrating Index, the numerical mean of fetal/maternal ratios for 6 selected amino acids, did not vary with gestational age but was significantly reduced in intrauterine growth retarded pregnancies.