Abstract
A first born infant girl developed a myopathic lipid storage (light microscopy and EM)tetraparesis and hydrocephalus with reduced white matter density(CT scan). Leukocyte and fibroblast MTHFR was low(12% of control), without flavin adenine dinucleotide and 5% with FAD). Cystathionine synthase and methionine synthetase were normal. Free carnitine (C)was reduced in plasma(21.6 nmol/ml)and muscle(3.04 nmol/mg non-collagen protein). Plasma methionine(M)was low(1.0 um/1). Homocystine(HC) was increased in urine(1.6 um/mg creatinine)and plasma (3.1 um/1). Low(6.4 ng/ml)CSF folate(F)reversed the normal plasma/CSF ratio. At 14 mos. full clinical recovery has occurred with oral substrate(F-M-C) supplements.
This neonatal CNS syndrome appears to be due to a M/F deficiency from absent MTHFR. Via S-adenosylmethionine (SAM) ,methionine is a methyl donor in lysine conversion to carnitine, necessary for muscle fatty acid metabolism SAM also contributes to phosphatidylcholine(lecithin) an important component of normal myelin.This new disorder differs from other types of carnitine deficiency.
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Allen, R., Wong, P., Rothenberg, S. et al. 1556 NEONATAL CARNITINE DEFICIENCY WITH MUSCLE AND CNS DETERIORATION SECONDARY TO ABSENT 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) RESPONSIVE TO SUBSTRATE REPLACEMENT. Pediatr Res 15 (Suppl 4), 702 (1981). https://doi.org/10.1203/00006450-198104001-01573
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DOI: https://doi.org/10.1203/00006450-198104001-01573