Assuntos
Carotenoides/sangue , Feminino , Humanos , Lactente , Erros Inatos do Metabolismo/sangue , Dermatopatias/sangueRESUMO
Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, neutropenia and fasting lactacidemia which decreased sharply on glucose administration.
Assuntos
Doença de Depósito de Glicogênio Tipo I/complicações , Hepatomegalia/etiologia , Humanos , Hipoglicemia/etiologia , Lactente , Masculino , Neutropenia/etiologiaRESUMO
Hyperargininemia due to arginase deficiency is a rare, inherited, urea cycle disorder. We report a case of arginase deficiency in a 5-year old boy presenting with mild hyperammonemia, hyperargininemia, and dibasic aminoaciduria.
Assuntos
Arginase/deficiência , Pré-Escolar , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Genes Recessivos , Humanos , Hiperargininemia/diagnóstico , MasculinoRESUMO
The inborn errors of GM2 ganglioside metabolism cause GM2 ganglioside to accumulate within the lysosomes of the nerve cells. The majority of the patients are infants with the Tay-Sachs form of the disease associated with a severe deficiency of beta-N-Acetylhexosaminidase A (hexosaminidase A). Both Hexosaminidase A and B are deficient in Sandhoff disease. The serum total hexosaminidase and the percentage of hexosaminidase A and B were estimated in 449 patients who presented with progressive mental-motor retardation. Three cases of Tay-Sachs disease and two cases of Sandhoff disease were detected. They presented with exaggerated startle response to acoustic stimuli, seizures, optic atrophy and retinal cherry red spots in addition to psychomotor retardation. One case of Sandhoff disease had hepatosplenomegaly and skeletal deformities.