Humans ; Propionic Acidemia/complications* ; Cardiomyopathy, Dilated/etiology*

Humans ; Infant ; Male ; Propionic Acidemia ; complications ; diagnosis ; therapy

Methylmalonic acidemia (MMA) is a series of rare inherited organic acid metabolic disorders with variable and nonspecific clinical manifestations, in particular neurological symptoms such as vomiting, lethargy, etc. Even with timely treatment, patients may still have various degrees of neurological complications and can even die. The prognosis is mainly related to the type of genetic variants, level of metabolites, newborn screening, onset of disease and early initiation of treatment. This article has reviewed the prognosis of patients with various types of MMA and factors that may affect it.
Infant, Newborn ; Humans ; Amino Acid Metabolism, Inborn Errors/complications* ; Prognosis ; Mutation ; Neonatal Screening ; Propionic Acidemia

OBJECTIVETo study the clinical features of organic acidemia in neonates admitted to the intensive care unit.

METHODSThe clinical features of neonates from 15 neonatal intensive care units of Henan Province, who were diagnosed with congenital organic acidemia by gaschromatography-mass spectrometry (GC-MS) between June 2008 and August 2011 were retrospectively reviewed.

RESULTSFifty neonates of 287 high risk neonates were confirmed as having or highly suspected to have inborn errors of metabolism. Of the 50 cases, 32 cases were diagnosed with organic acidemia disease, including 28 cases of methylmalonic acidemia, 2 cases of propionic acidemia, 1 case of maple syrup urine disease and 1 case of isovaleric acldemla. In most cases, disease onset occurred in the first week after birth in most of cases (75%). Neonates whose symptoms occurred immediately after or within a few hours of birth presented with serious conditions. Clinical manifestations were various and mainly related to neurologic, respiratory and gastrointestinal symptoms such as poor response, coma, drowsiness, abnormal muscle tone, convulsions, polypnea, dyspnea, milk refusal, diarrhea and jaundice. Initial symptoms were non-specific and included dyspnea, poor response, milk refusal, lethargy and seizures.

CONCLUSIONSMethylmalonic acidemia is a common inherited metabolic disease in the neonatal period. Clinical manifestations of organic acid metabolism abnormalities in neonates are atypical and early onset is associated with more serious conditions.

Amino Acid Metabolism, Inborn Errors ; complications ; diagnosis ; Diagnosis, Differential ; Female ; Gas Chromatography-Mass Spectrometry ; Humans ; Infant, Newborn ; Intensive Care Units, Neonatal ; Male ; Maple Syrup Urine Disease ; complications ; diagnosis ; Propionic Acidemia ; complications ; diagnosis