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functional peroxisome enzyme deficiency
- ... in digestion and in the nervous system. In peroxisomes, the AMACR enzyme plays a ... of functional enzyme. The enzyme deficiency leads to accumulation of ...
- ... This mutation results in a lack (deficiency) of functional enzyme. The enzyme deficiency leads to accumulation of pristanic acid in the ... to the specific signs and symptoms of AMACR deficiency. More About This Health ... result in a lack of functional AMACR enzyme have also been identified in infants with a ...
- ... den Bosch H. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. J Biol Chem. 1998 Apr 24;273(17): ...
- ... RCDP2). These mutations prevent cells from making any functional DHAPAT enzyme. A shortage of this enzyme disrupts peroxisome function and severely reduces the amount of plasmalogens ...
- The HSD17B4 gene provides instructions for making the D-bifunctional protein. This protein is an enzyme, which means that it helps specific biochemical reactions ...
- Leukodystrophies/Start Here ... Leukodystrophies ... Leukodystrophy refers to genetic diseases that predominantly affect the white matter of the central nervous ...
- Leukodystrophies/Specifics ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... Leukodystrophy refers to genetic diseases that predominantly ...
(National Institute of Neurological Disorders and Stroke) 