The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria

Faull, Kym F.; Bolton, P. D.; Halpern, B.; Hammond, J.; Danks, David M.

doi:10.1016/0009-8981(76)90160-1

Cited by 75 publications

(29 citation statements)

References 10 publications

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“…It includes increased urinary excretion of 3-hydroxyisovaleric, 3-methylglutaric, 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids [12,16,17,55]. These compounds are on the leucine catabolic pathway (Fig.…”

Section: Metabolitesmentioning

confidence: 98%

“…There was some controversy as to whether the urine of the index patient with HMG-CoA lyase deficiency contained elevated levels of 3-methylcrotonic acid [17,29,53,55]. 3-Methylcrotonic acid might be transformed by the liver to its glycine derivative which was identified in the urine of dizygotic twins suffering from HMG-CoA lyase deficiency during periods of particularly severe illness [44].…”

Section: Metabolitesmentioning

confidence: 98%

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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: Metabolitesmentioning

confidence: 98%

Section: Metabolitesmentioning

confidence: 98%

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

1988

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“…Its absence causes HL deficiency or 3-hydroxy-3-methylglutaric aciduria (MIM# 246450), a rare autosomal recessive genetic disorder that affects ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycaemia and lethargy (Faull, et al, 1976). These symptoms sometimes progress to coma, with fatal outcome in about 20% of cases (Sweetman and Williams, 2001).…”

Section: Introductionmentioning

confidence: 99%

Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

et al. 2009

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3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder that affects ketogenesis and L-leucine catabolism. The clinical acute symptoms include vomiting, convulsions, metabolic acidosis, hypoketotic hypoglycaemia and lethargy. To date, 33 mutations in 100 patients have been reported in the HMGCL gene. In this study 10 new mutations in 24 patients are described. They include: 5 missense mutations: c.109G>A, c.425C>T, c.521G>A, c.575T>C and c.598A>T, 2 nonsense mutations: c.242G>A and c.559G>T, one small deletion: c.853delC, and 2 mutations in intron regions: c.497+4A>G and c.750+1G>A. Two prevalent mutations were detected, 109G>T (E37X) in 38% of disease alleles analyzed and c.504_505delCT in 10% of them. Although patients are mainly of European origin (71%) and mostly Spanish (54%), the group is ethnically diverse and includes, for the first time, patients from Pakistan, Palestine and Ecuador. We also present a simple, efficient method to express the enzyme and we analyze the possible functional effects of missense mutations. The finding that all identified missense mutations cause a >95% decrease in the enzyme activity, indicates that the disease appears only in very severe genotypes."

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“…This disease was first described in 1976 in a 7-month old boy from Australia (2). His major symptoms included vomiting, cyanosis, apnea, metabolic acidosis, hypoglycemia, and an increase in urine 3-hydroxy-3-methylglutaric acid (2).…”

Section: Introductionmentioning

confidence: 99%

3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

Hao

Wang

Liu

et al. 2016

Experimental and Therapeutic Medicine

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Abstract. 3-Hydroxy-3-methylglutaric aciduria (3-HMG, OMIN 246450) is a rare autosomal recessive metabolic disorder caused by a deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase, a key enzyme in leucine metabolism and ketone body synthesis. Acute episodes of 3-HMG may be triggered by fasting or infection, and symptoms include vomiting, diarrhea, lethargy and hypotonia. If left untreated, prolonged hypoglycemia and metabolic acidosis may cause breathing problems, seizures, and coma. In addition, 3-HMG is associated with damage to the central nervous system, and there are several reports of white matter abnormality or cerebral atrophy. The presence of bilateral basal ganglia damage in 3-HMG has been rarely reported. Here, we present a case report of a 20-month old male with severe 3-HMG and prominent bilateral lesions in the basal ganglia.

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The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria

Cited by 75 publications

References 10 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

Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

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