1101 HYPERLIPIDEMIA AND GLUCOSE INTOLERANCE WITH HYPOCUPRINEMIA IN MENKES' DISEASE

Abstract

Two infants presented with fine brittle hair with characteristic kinking. Their clinical course was characterized by neurological degeneration and a tendency to gain weight. In Case #1 (6 m. male) the S. copper was 5.09 ug/dl (80-120) and ceruloplasmin 2.44 ug/dl (20-50). I.V. GTT demonstrated glucose intolerance with K values of 0.81 and 0.825 but with an insulin peak of 35 uU/ml. Triglyceride TG=66 mg/dl and cholesterol TC=178 mg/dl (normal TG=73±37, TC=150±25). Apoliproteins (Apo's) were Apo AI, 97.4 mg/dl and Apo B, 110.9 mg/dl. In Case #2 (13 m. male) the S. copper was 12.7 ug/dl and ceruloplasmin 1.58 mg/dl. The I.V. GTT K rate was 1.98; TG, 149 mg/dl; TC, 160 mg/dl; Apo's AI, 100.2 mg/dl; All, 51.7 mg/dl; B, 110.6 mg/dl; CIII, 10.5 mg/dl; E, 7.0 mg/dl; post-heparin lipoprotein lipase activity was 14.94±3.62 and triglyceride lipase activity 10.94±4.63 units per ml per hour using heparin sepharose affinity chromatography for enzyme separation and ¹⁴C labeled triolein as substrate (young adult normal LPL=14.9±3.6, TGL=10.9±4.6). Lipoprotein separation revealed a predominant increase in TG, TC and Apo B in VLDL in Case 2. Double diffusion analysis and crossed electrophoresis against anti-Apo B on agarose gels revealed normal immunoprecipitin lines. We conclude that in Menkes' disease, copper deficiency may cause secondary hyperlipidemia as suggested by Allen, K.G.D. and Klevay L.M. (Life Sciences 22, 1691, 1978).

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