3-hydroxy-3-methylglutaric aciduria: 3-Hydroxy-3-methylglutaryl-coenzyme a lyase levels in leucocytes

Wysocki, SJ; Hähnel, R.

doi:10.1016/0009-8981(76)90186-8

Cited by 40 publications

(12 citation statements)

References 5 publications

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“…Decreased activity of HMG-CoA lyase has been demonstrated in cultured fibroblasts [11,21,51], leucocytes [19,33,52] and biopsied liver [41] of affected patients. Enzyme activities of some patients and their parents are summarized in Table 2.…”

Section: Enzyme Assaymentioning

confidence: 97%

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

1988

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of leucine catabolism which often leads to life-threatening illness in the neonatal period. The cardinal clinical features include severe infantile hypoglycemia, metabolic acidosis, hepatomegaly, lethargy or coma and apnea. Hyperammonemia is variable. There is a characteristic absence of ketosis. Considerable heterogeneity has been observed in clinical and biochemical presentation. Acute episodes of illness have been mistaken for Reye syndrome. The pattern of organic acids in the urine includes large amounts of 3-hydroxy-3-methylglutaric, 3-methyl-glutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids. Smaller, but appreciable levels of glutaric, adipic and other dicarboxylic acids may also be excreted in the urine. Lactic acid may be present in sizable amounts at times of acute illness. The primary defect is a deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A lyase, a key enzyme in the cycle of ketogenesis.

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Section: Enzyme Assaymentioning

confidence: 97%

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

1988

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“…3-Methylglutaconic aciduria combined with 3-hydroxy-3-methylglutaric aciduria has also been described [5,6,14]. The clinical picture was that of an intermittent metabolic acidosis, associated with vomiting, diarrhea, drowsiness and attacks of cyanosis.…”

Section: Discussionmentioning

confidence: 95%

3-Methylglutaconic aciduria: Report on a sibship with infantile progressive encephalopathy

et al. 1978

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Choreoathetosis, spastic parapareses, dementia and optic atrophy were the main clinical features in a sibship with progressive encephalopathy of late onset. The urine contained constantly elevated amounts of 3-methylglutaric and 3-methylglutaconic acids. The identity of these metabolites was confirmed by synthesis and mass spectrometry. On leucine loading, the excretion of the metabolites was elevated.

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“…3-hydroxy-3-methylglutaric acid can also appear in carbamyl phosphate synthase deficiency and in the Leigh-like syndrome (12,13,15,22,45,48). The confirmation of HL deficiency requires direct assay of the enzyme activity in leukocytes (47), fibroblasts (46) or liver biopsy (34,36). In prenatal diagnosis the pattern of organic acids in amniotic liquid (11) and in maternal urine between gestation week 23 and delivery have also been also used (14).…”

Section: Clinical Aspects and Diagnosismentioning

confidence: 99%

Base molecular de la aciduria 3-hidroxi-3-metilglutárica

et al. 2003

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3-Hydroxy-3-methylglutaric aciduria is a human autosomal recessive metabolic disorder that usually appears within the first year of life. The causes of this aciduria are lethal mutations in the gene encoding for 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL). HL is a mitochondrial matrix enzyme that catalyzes the last step of ketogenesis and leucine catabolism. This gene has been mapped to chromosome 1 at locus 1pter-p33 and its genomic organisation comprises 9 exons whose sizes vary between 64-678 bp. The human cDNA sequence was reported in 1993 with the first genetic study of two Acadian-French Canadian siblings. To date, 24 mutations in 36 patients have been described; most of them are single-base substitutions causing amino acid replacements and a variety of splicing defects. In the population studied two mutations appear predominant: g.122GA (8 patients and 15 alleles) frequent in Saudi Arabia, and g.109GT (6 patients and 12 alleles), prevalent in Spain. At least seven mutations are clustered in the second half of exon 2 affecting aminoacids E37, R41 and D42 and conforming a possible hot spot. The genotype-phenotype correlation is difficult to establish since the probands received different treatments, and the onset of an acute episode frequently depends on external factors such as fasting or acute illness.

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3-hydroxy-3-methylglutaric aciduria: 3-Hydroxy-3-methylglutaryl-coenzyme a lyase levels in leucocytes

Cited by 40 publications

References 5 publications

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

3-Methylglutaconic aciduria: Report on a sibship with infantile progressive encephalopathy

Base molecular de la aciduria 3-hidroxi-3-metilglutárica

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