Abstract
A 13-month-old girl with dysphagia, severe psychomotor retardation, spasticity, hypertonicity and Kostmann type neutropenia was diagnosed to have 3-metylglutaconie aciduria (3 MGCU). Basal urinary excretion of 3-methylglutaconate (MGC) and 3-methylglutarate (MGR) were elevated (45.6 and 12.5mmol/mol ·creat.) but that of 3-hydroxyisovalerate (IIIV) was normal. Oral leucine loading (100mg/kg) rose the level of HIV in the urine 7 times higher than the basal level without obvious increase of MGC and MGR. Absolute noutophil counts (ANC) were always less than 1,000/μl. Bone marrow aspiration revealed significantly hypoplastic myelopoiesis with the maturation arrest at the stage of promyelocyte. Serum G-CSF levels were elevated when ANC were lower than 500/μl. G-CSF stimulated CFU-G proliferation normally in vitro but clinical response to rhG-CSF was poor. These findings suggest that this 3 MGCU type 2 case may have circulating inhibitors to myelopoiesis.
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Morimoto, A., Kizaki, Z., Konishi, K. et al. 150 A CASE OF 3-METHYCUTACONIC ACIDURIA WITH CONGENITAL NEEUTROPENIA. Pediatr Res 30, 653 (1991). https://doi.org/10.1203/00006450-199112000-00180
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DOI: https://doi.org/10.1203/00006450-199112000-00180