3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease

Journal of Inherited Metabolic Disease

Volumn 22, Issue 5, 1999, Pages 593-598

  Di Rocco, M ^a   Caruso, U ^a   Moroni, I ^b   Lupino, S ^a   Lamantea, E ^b   Fantasia, A R ^a   Borrone, C ^a   Gibson, K M ^c  

^a G GASLINI INSTITUTE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; METHIONINE;

ACIDURIA; ARTICLE; BLOOD LEVEL; CASE REPORT; DIET RESTRICTION; HUMAN; LEIGH DISEASE; MALE; PRESCHOOL CHILD;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; GLUTARATES; HUMANS; LEIGH DISEASE; MALE; METHIONINE; SKULL; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0033043520     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005565610613     Document Type: Article

References (11)

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10. Mudd SH, Levy HL, Skovby F (1989) Disorders of transsulfuration. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York McGraw-Hill, 1279-1328.
11. Pollit RJ, Green A, Smith R (1981) Excessive excretion of β-alanine and 3-hydroxypropionic, R- and S-3-aminosobutyric, R- and S-3-hydroxybutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes. J Inher Metab Dis 8: 75-79.