[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder]. / Déficit en 3-HMG-CoA lyase à révélation tardive : savoir reconnaître une maladie rare mais traitable.
Arch Pediatr
; 17(1): 10-3, 2010 Jan.
Article
in Fr
| MEDLINE
| ID: mdl-19932602
ABSTRACT
3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. HMG-CoA lyase deficiency can lead, in particular circumstances, such as fever, prolonged fasting or digestive disorders, to brutal and severe hypoglycemia with metabolic acidosis and sometimes fatal coma. We report on a new case of 3-hydroxy-3-methylglutaric aciduria particular by its late onset in a 3-year-old patient. Molecular investigation identified two new sequence modifications in the HMGCL gene c.494G>A (p.Arg165Gln) and c.820G>A (p.Gly274Arg). We remind about this case report that the therapeutical is mainly preventive and allows a very good prognosis for this disease. Long-term treatment consists in limited fasting time, continuous low protein diet and l-carnitine supplementation. Preventive measures are essential prevention of fasting and emergency treatment during intercurrent infections.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosome Aberrations
/
Rare Diseases
/
Genes, Recessive
/
Amino Acid Metabolism, Inborn Errors
/
Meglutol
/
Hypoglycemia
/
Oxo-Acid-Lyases
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child, preschool
/
Humans
/
Male
Language:
Fr
Journal:
Arch Pediatr
Year:
2010
Document type:
Article
Affiliation country:
France