A 14-month-old boy presented with loss of developmental milestones and tonic spasms following a diarrheal illness. He was born to nonconsanguineous parents and had mild motor delays. Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric dystonic posturing of neck, trunk, and extremities. Brain MRI (figure) and elevated glutaryl carnitine on tandem mass spectroscopy were d...

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. It is caused by rare mutations as well as polymorphic susceptibility variants. We describe here the case of a 1-year-old male patient who had growth and mental retardation, seizures, and recurring fever since infancy. Urinary gas chromatography/mass spectrometr...

Abstract Isocitrate dehydrogenase (IDH) mutations are common genetic alterations in myeloid disorders, including acute leukemia (AML) and myelodysplastic syndrome (MDS). Epigenetic changes, abnormal histone DNA methylation, have been implicated the pathogenic build-up of hematopoietic progenitors, but it is still unclear whether how IDH themselves affect hematopoiesis. Here, we show that IDH1-m...

Fatty acid oxidation in mitochondrial matrix is a major source of energy in muscle, especially when physiological energy demand is increased and exceeds what can be provided through glycolysis. Not surprisingly, a group of muscle disorders due to defects in this system usually leads to the development of acute rhabdomyolysis in conditions such as infection, fasting and prolonged exercise. This ...

TO THE EDITOR: To investigate the impact of maternal diabetes on oocyte metabolism and meiotic maturation, Ratchford et al. (10) reported changes in 3-hydroxyacyl-CoA dehydrogenase II (Hadh2) activity in oocytes after treatment with 5-aminoimidazole-4-carboxamide-1-D-ribofuranoside or after administration of human chorionic gonadotropin, respectively (as shown in Figs. 3A and 4A of Ref. 10). Th...