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Diseases

Genetic and Rare Diseases Information Center (GARD)

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HMG CoA lyase deficiency


Other Names for this Disease

  • 3-hydroxy-3-methylglutaric aciduria
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • Defect in leucine metabolism
  • HL deficiency
  • HMG-CoA lyase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of HMG CoA lyase deficiency?

The signs and symptoms of HMG CoA lyase deficiency usually appear within the first year of life. The condition causes episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). During one of these episodes, blood sugar levels can become dangerously low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis). If untreated, the disorder can lead to breathing problems, convulsions (seizures), coma, and death. Episodes are often triggered by an infection, fasting (not eating enough), strenuous exercise, or other types of stress.[1]
Last updated: 12/21/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for HMG CoA lyase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
3-Methylglutaric aciduria -
Autosomal recessive inheritance -
Coma -
Death in childhood -
Decreased plasma carnitine -
Fever -
Glutaric aciduria -
Hepatomegaly -
Hyperammonemia -
Hypoglycemia -
Metabolic acidosis -
Somnolence -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Genetics Home Reference. October, 2008; http://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coenzyme-a-lyase-deficiency. Accessed 12/21/2010.


Other Names for this Disease
  • 3-hydroxy-3-methylglutaric aciduria
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • Defect in leucine metabolism
  • HL deficiency
  • HMG-CoA lyase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.