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Literature DB >> 27367

Methylmalonic acidemia.

I Matsuda, T Terashima, J Yamamoto, I Akaboshi, S Shinozuka, S Hattori, N Nagata, Y Oka.

Abstract

A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described. Metabolic acidosis was found to be due to accumulated methylmalonic acid and did not respond to vitamin B12 administration. The patient showed favorable growth and development when kept on a low isoleucine, methionine, threonine and valine diet. In vitro studies using a lymphoid cell line derived from the patient showed a deficiency of methylmalonyl-CoA carbonyl-mutase.

Entities: Chemical Disease Species

Mesh：

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Year: 1978 PMID： 27367 DOI： 10.1007/BF00444303

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

15 in total

2. Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis.

Authors: Zafer Bicakci
Journal: Medicine (Baltimore) Date: 2015-03 Impact factor: 1.889

2 in total

Methylmalonic acidemia.

1. Methylmalonic aciduria without vitamin B12 deficiency in an adult sibship.

2. Prenatal diagnosis of I-cell disease.

3. A case of methylmalonic and propionic acidemia due to methulmalonyl-CoA carbonylmutase apoenzyme deficiency.

4. In vitro "responsive" methylmalonic acidemia: a new variant.

5. Response to dietary therapy in B 12 unresponsive methylmalonic acidemia.

6. Propionate metabolism in cells cultured from a patient with methylmalonic acidemia.

7. Methylmalonic aciduria: a variant form of methylmalonyl coenzyme A apomutase deficiency.

8. A simplified and rapid quantitative assay for propionic and methylmalonic acids in urine.

Review 9. [Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)].

10. Methylmalonic aciduria: metabolic block localization and vitamin B 12 dependency.

Review 1. Methylmalonic and propionic acidemias: clinical management update.

2. Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis.