A series of metabolic disorders with prominent neurological accompaniments and serious deleterious effects on the developing central nervous system has been described under the designation organic acid disorders . The term organic acid is particularly imprecise but, unfortunately, appears to…
Since the late 1950s, numerous disorders of amino acid (AA) metabolism have been described with major implications for the developing nervous system. Although each of the disorders is rare, collectively they are important for two major reasons. First, they represent…
Key Points Lysosomal storage diseases are a genetically and phenotypically heterogeneous group of metabolic disorders caused by multisystemic accumulation of complex substrates. Clinical manifestations of lysosomal storage diseases in the neonatal period are myriad, including nonimmune hydrops fetalis, respiratory distress,…