Long‐term effects of bone marrow transplantation (BMT) were evaluated in patients with I‐cell disease, metachromatic leukodystrophy (MLD), Maroteaux‐Lamy syndrome or Hunter syndrome (mild form). Donors were human leukocyte antigen (HLA)‐matched siblings, and the follow‐up periods were 24–71 months after BMT. The enzyme activities were increased in leukocytes, plasma or liver tissues compared with pre‐BMT levels. A patient with I‐cell disease acquired development of 4–8 month old infants and showed no further progression in cardiac dysfunctions. A patient with MLD showed a decelerated disease progression and an improved peripheral neuropathy, but progressive brain atrophy was not prevented. Patients with Maroteaux‐Lamy syndrome or Hunter syndrome showed improvements in hepatomegaly, joint contractures, short stature and tight skin, and this greatly increased their quality of life. These results indicated that the long‐term therapeutic effects achieved by BMT were subject to multiple factors including biochemical improvements, a reversibility of affected tissues, or advanced states of disease and central nervous system impairments in inborn errors of metabolism.

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We examined the lysosomal enzyme levels in tear fluids from a patient with I-cell disease after treatment by bone marrow transplantation. Acid phosphatase, β-D-glucuronidase, N-acetyl-β-D-glucosaminidase, α-L-fucosidase and α-D-mannosidase activities were reduced to normal or nearly normal levels after the treatment. We believe that the measurement of tear enzyme levels in I-cell disease is useful for knowing the efficacy of the bone marrow transplantation.

Serum lipoprotein pattern, apoproteins and two postheparin triglyceride lipases were analyzed in a patient with familial lipoprotein lipase (LPL) deficiency and her family. Serum of the patient showed extreme hyperchylomicronemia and her postheparin plasma LPL activity was distinctly decreased. None of heterozygotes had any type of hyperlipoproteinemia. The mother and brother of the patient had moderately decreased LPL activity. There were no consistent changes in hepatic triglyceride lipase (H-TGL) activity among heterozygotes. These results suggest that assay of LPL may be helpful for detection of heterozygotes in familial LPL deficiency.lipoprotein lipase deficiency ; hyperlipoproteinemia ; apoprotein C-II ; chylomicronemia Type I familial hyperlipoproteinemia is a rare disease associated with marked hyperchylomicronemia and normal very low density lipoproteins (VLDL) in plasma. Among several subtypes the most common cause of this disease is thought to be lipoprotein lipase (LPL) deficiency.The purpose of this communication is to report a case of primary LPL deficiency in a female infant, whose chylemia was detected at the age of 5 days, and to investigate the serum lipoprotein pattern and LPL activity in the family members. CASE REPORTThe patient, who was born without particular accident during perinatal period, visited an obstetrician for the routine screening of congenital metabolic disorders and for evaluation of jaundice at the age of 5 days. Her parents are healthy and they are first cousins (her grandmothers are sisters). Her 3-year-old