Liver transplant is a treatment option for patients with MMA-emia. While this therapy does not bring about a complete cure, it is expected to prolong survival and improve the QOL of patients. The aim of this study was to evaluate the significance of LDLT for patients with MMA-emia in Japan. Clinical information on 13 patients with MMA-emia who underwent LDLT was acquired using a self-developed questionnaire sent to the doctors who provided medical care to patients with MMA-emia after LDLT. Almost all of the patients continued on a protein-restricted diet, and the number of acidosis attacks had significantly decreased. Physical growth had recovered to within the normal range by 2.5 years after LDLT, especially in patients who underwent LDLT before the age of 1 year. The average propionyl carnitine (C3) level had significantly decreased after LDLT, and the DQs had not worsened. Liver transplant should be performed for MMA-emia in early life. This can be expected to maintain neurological development and improve the growth and QOL of patients. However, LDLT is not a curative treatment for MMA-emia. A protein-restricted diet should be continued, and renal function should be monitored closely, with consideration of a renal transplant.

UCDs are among the most common inherited metabolic diseases in Japan. We investigated the clinical manifestations, treatment, and prognoses of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009 in Japan, using a questionnaire survey. Among these 177 patients, 42 (seven with carbamoyl phosphate synthetase 1 deficiency, 27 with ornithine transcarbamylase deficiency, seven with argininosuccinate synthetase deficiency, and one with arginase 1 deficiency) underwent living-donor LT. Although this study was retrospective and included limited neurodevelopmental information before and after LT, we evaluated whether LT could improve neurodevelopmental outcomes in patients with UCDs. The neurodevelopmental outcomes of patients with a MAC of <300 μmol/L at the time of onset were not significantly different between the LT and non-LT groups (P=.222). LT may have prevented further neurodevelopmental complications in children with MAC ≥300 μmol/L (P=.008) compared with non-transplant management. Therefore, Liver transplant should be considered in patients with UCD with a MAC of ≥300 μmol/L at the time of disease onset.

BackgroundNeonatal nonoliguric hyperkalemia (NOHK) is a metabolic abnormality that occurs in extremely premature neonates at approximately 24 h after birth and is mainly due to the immature functioning of the sodium (Na+)/potassium (K+) pump. Magnesium sulfate is frequently used in obstetrical practice to prevent preterm labor and to treat preeclampsia; this medication can also cause hypermagnesemia and hyperkalemia by a mechanism that is different from that of NOHK. Herein, we report the first case of very early-onset neonatal hyperkalemia induced by maternal hypermagnesemia.Case presentationA neonate born at 32 weeks of gestation developed hyperkalemia (K+ 6.4 mmol/L) 2 h after birth. The neonate’s blood potassium concentration reached 7.0 mmol/L 4 h after birth, despite good urine output. The neonate and his mother had severe hypermagnesemia caused by intravenous infusion of magnesium sulfate given for tocolysis due to pre-term labor.ConclusionThe early-onset hyperkalemia may have been caused by the accumulation of potassium ions transported through the placenta, the shift of potassium ions from the intracellular to the extracellular space in the infant due to the malfunctioning of the Na+/K+ pump and the inhibition of renal distal tube potassium ion secretion, there is a possibility that these mechanisms were induced by maternal and fetal hypermagnesemia after maternal magnesium sulfate administration. Because neonatal hyperkalemia poses a significant risk for the development of life-threatening cardiac arrhythmia, this case highlights the necessity of maternal blood magnesium monitoring during magnesium sulfate administration and neonatal blood potassium monitoring when there is severe maternal hypermagnesemia at delivery.

Progressive supranuclear palsy (PSP) is known to display variable atypical clinical features. In the absence of clinical markers to diagnose PSP, neuropathological examination is the "gold standard" for diagnosis. We retrospectively investigated clinical features in seven autopsy-confirmed cases of PSP. Only three patients (42.9%) matched the clinical diagnostic criteria of PSP proposed by the National Institute of Neurological Disorders and Stroke and the Society for PSP (NINDS-SPSP) at the time of death. In addition, only one patient (14.3%) matched these criteria at the time of the initial symptoms. Such underdiagnosis of PSP was mainly caused by heterogeneity, variety of the timing, and presence of symptoms in exclusion criteria. The present study also demonstrated that the clinical features of PSP may change dramatically according to the disease stage. Target symptoms should be selected based on time and stage to optimize patient quality of life.