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Five of them were diagnosed with congenital metabolic diseases, which were glucose transporter type 1 deficiency syndrome, maple syrup urine disease, methylmalonic aciduria, and mitochondrial disease.
Food preparation) ga gel cpv 15880000-0 ga gel, Powdered lysine free and low tryptophan protein substitute, Containing essential and non essential amino acids, Carbohydrate, Vitamins, Minerals and trace elements, For the dietary management of glutaric aciduria type 1 (ga 1) from 1 to 10 years of age.
In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases) and argininosuccinic aciduria (two cases) are presented in terms of clinical course and treatment responses.
Asimismo dentro de los hallazgos sugestivos se encuentran hipoglucemia hipocetocica, miocardiopatia, arritmias cardiacas, acidosis metabolica, hiperamoniemia, rabdomiolisis, mioglobinuria, aciduria dicarboxilica, deficiencia de carnitina e insuficiencia hepatica (1, 2).
MADD is classified into 3 groups based on clinical phenotype: (a) neonatal form with congenital anomalies; (b) neonatal form without anomalies; and (c) mild form characterized by ethylmalonicadipic aciduria.
2) In children, for example, mutations in the gene encoding the methylmalonic aciduria and homocystinuria type C (MMACHC) have been identified that result in abnormal cobalamin C metabolism, termed cobalamin C disease, which in turn has been associated with endothelial dysfunction, platelet activation, coagulation cascade activation, and increased expression of tissue factor.
Other children included Matilda Hatton, from Walsall, who is one of an estimated 20 people to have Sensenbrenner Syndrome, siblings Noah and Ruby Harvey, from West Bromwich, who both have Glutaric Aciduria Type 1, and Skye Gardner, from Wednesbury who has Williams Syndrome.
Leigh's disease 13 MLD 4 Wilson's disease 2 Gangliosidosis 2 PKAN (NBIA Type 1) 2 Canavan's disease 1 Alexander's disease 1 Glutaric aciduria 1
The advantages include aciduria, less mucous secretion, less urinary tract infections and stone.
It is indicated for the treatment of hereditary orotic aciduria.
Furthermore, from observations made on other inherited metabolic disorders, such as type 1 glutaric aciduria, galactosaemia and cystinosis, [16-18] it is becoming increasingly evident that the mutations commonly reported do not appear to reflect the disease-causing mutations among black African populations.
Our findings also suggest that some chemicals modulate pathways associated with vitamin metabolism (metabolism of vitamins and cofactors-mod3 in RLV) in hepatocytes, in particular those associated with the inherited metabolic disorders methylmalonic aciduria and homocystinuria.