OBJECTIVE Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion. This disorder can have symptoms, such as neurological and gastrointestinal manifestations, lethargy, and anorexia. MATERIALS & METHODS The patients who were diagnosed as methylmalonic acidemia in the Neurology De...

The authors provide an overview of the hereditary methylmalonic acidemias, a group of metabolic disorders with varied clinical presentations. This includes the most severe form of L-methylmalonyl-CoA mutase deficiency, termed mut(o) methylmalonic acidemia, which, together with the less severe deficiencies of L-methylmalonyl-CoA mutase, are the most common causes of methylmalonic acidemia. They ...

OBJECTIVE Evaluate obstetric characteristics during the last two hours of labor in neonates born with acidemia. DESIGN Case-control study. SETTING Delivery units at two university hospitals in Sweden. STUDY POPULATION Out of 28,486 deliveries during 1994-2004, 305 neonates had an umbilical artery pH value <7.05 at birth. METHODS CASES neonates with an umbilical artery pH < 7.05. Cont...

BACKGROUND The umbilical arterial pH (UApH) in cases of clinically apparent chorioamnionitis (CAM) in which the infant later develop severe cerebral palsy (CP) has not yet been fully investigated. The objective of this study was to determine the UApH in CAM cases in which the infant later develop severe CP. METHODS A review was conducted unti1 April 2014 among 324 infants with CP diagnosed to...

introduction: methylmalonic acidemia (mma) is a metabolic disorder and especial nutritional support has an important role in improvement of growth and development in these patients. case presentation: a 3-month old female infant with known mma was admitted to emergency department of dr sheikh children hospital with primary diagnosis of pneumonia and sepsis .this patient was a full term baby; mm...

OBJECTIVE The objective of this study was to estimate the predictive ability of electronic fetal monitoring (EFM) patterns immediately prior to delivery for acidemia at term birth. STUDY DESIGN This was a 4-year retrospective cohort study of 5388 consecutive singleton, nonanomalous gestations of 37 weeks or longer. The primary exposure was the EFM pattern in the 30 minutes preceding delivery....

objective: although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.method: using panel neonatal screening for detection of metabolic diseases in 650 high risk iranian patie...

BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical feat...

Methylmalonic Acidemia (MMA) is an inborn error of metabolism that results in accumulation of methylmalonic acid in blood and increased excretion in urine. The effects of MMA vary from mild to life threatening and it usually presents in early infancy. Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. The emergency treatment of the newborn wit...