(4)###Methyl malonate, 2 Methyl gluconate, 3 hydroxy propionate
: Response to carnitin therapy and fat and leucine restriction.
A syndrome of methylmalonic aciduria
, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian.
: an inborn error of metabolism?
In certain states in the USA, pyroglutamic aciduria
is included in the neonatal screening programs (4).
The more severe phenotype is mevalonic aciduria
(MA), usually associated with MVK enzyme activity less than 0.5%.
Opercular abnormalities may be caused by genetic factors, as usually seen in Miller-Dieker syndrome,[sup] glutaric aciduria
type 1,[sup], methylmalonic acidaemia,[sup] and nonsyndromic microencephaly.[sup] However, abnormal operculization on prenatal imaging does not systematically reflect the underlying cortical dysplasia.
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).
These cutaneous lesions have been described during treatment of aminoacidopathies (MSUD) [4, 5] and organic acidemias (methylmalonic acidemia, glutaric aciduria
, and propionic acidemia) [6, 7] due to deficiency of isoleucine.
Naushad, "Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria
: a south Indian experience," Clinical Biochemistry, vol.
(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.