Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis. 1991

I T de Almeida, and M Duran, and M F Silva, and R Portela, and A Cabral, and T Tasso, and F Eusébio, and C Silveira
Centro de Metabolismos e Genética (INIC), Faculdade de Farmácia, Lisboa, Portugal.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007662 Ketosis A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE). Ketoacidosis,Metabolic Ketoacidosis,Metabolic Ketosis,Acetonemia,Acetonuria,Ketoacidemia,Ketoaciduria,Ketonemia,Ketonuria,Acetonemias,Acetonurias,Ketoacidemias,Ketoacidoses,Ketoacidoses, Metabolic,Ketoacidosis, Metabolic,Ketoacidurias,Ketonemias,Ketonurias,Ketoses, Metabolic,Ketosis, Metabolic,Metabolic Ketoacidoses,Metabolic Ketoses
D008297 Male Males
D008764 Methylmalonic Acid A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA. Acid, Methylmalonic
D011422 Propionates Derivatives of propionic acid. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxyethane structure. Propanoate,Propanoic Acid,Propionate,Propanoates,Propanoic Acid Derivatives,Propanoic Acids,Propionic Acid Derivatives,Propionic Acids,Acid, Propanoic,Acids, Propanoic,Acids, Propionic,Derivatives, Propanoic Acid,Derivatives, Propionic Acid
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000592 Amino Acid Metabolism, Inborn Errors Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life. Amino Acidopathies, Congenital,Amino Acid Metabolism Disorders, Inborn,Amino Acid Metabolism, Inborn Error,Amino Acid Metabolism, Inherited Disorders,Amino Acidopathies, Inborn,Congenital Amino Acidopathies,Inborn Errors, Amino Acid Metabolism,Inherited Errors of Amino Acid Metabolism,Amino Acidopathy, Congenital,Amino Acidopathy, Inborn,Congenital Amino Acidopathy,Inborn Amino Acidopathies,Inborn Amino Acidopathy

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