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Summary
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (HMGCLD)
3-HYDROXY-3-METHYLGLUTARIC ACIDEMIA LEUCINE METABOLISM, DEFECT IN, HMG-CoA LYASE DEFICIENCY
246450
OMIM = Online Medalian Inheritance of Men
20
1p36.11

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • avoidance of fasting
  • high-carbohydrate diet
  • L-carnitine
  • leucine-restricted diet
  • low-fat diet
  • low-protein diet
rare (<1:200000)
autosomal recessive
mutation in the HMGCL gen
relatively common in Arabic populations
symptoms
anemia
basal ganglia, changes, lesions, calcifications (MRI, CT)
cardiomyopathy
cerebral atrophy
coma
dehydration
early death
hemiparesis/hemiparetic cerebral palsy
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
hypoketotic hypoglycemia
hypotonia
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
leukoencephalopathy
liver involvement or dysfunction
macrocephaly (large calvaria, >2 SD for age)
metabolic acidosis
neutropenia (decreased neutrophils)
onset, adulthood
onset, infancy
onset, neonatal
Organic acids, urine
pancreatitis
seizures
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
white matter changes, abnormalities
laboratory finding
pH7.007.407.357.45no unitblood
3-Hydroxy-3-methylglutaric acid200.0011000.006.0050.00mmol/mol creatinineurine
3-Methylglutaconic acid60.0010000.000.009.00mmol/mol creatinineurine
3-Methylglutaric acid14.001000.000.007.00mmol/mol creatinineurine
3-Hydroxyisovaleric acid60.004000.000.0046.00mmol/mol creatinineurine
3-Methylcrotonylglycine2.00450.000.002.00mmol/mol creatinineurine
Ammonia60.002000.0025.0080.00-Ámol/lblood
D-Glucose0.201.002.805.00mmol/lserum
Lactic acid1.006.000.901.80mmol/lblood
Transaminases30.002000.0010.0030.00U/lserum
Adipic acid12.0050.001.007.00mmol/mol creatinineurine
L-Carnitine0.000.00 decreasedurineno data
3-Hydroxy-3-methylglutaryl-CoA lyase 100.00decreased activityfibroblasts
3-Hydroxy-3-methylglutaryl-CoA lyase 100.00decreased activityleucocytes
3-Hydroxy-3-methylglutaryl-CoA lyase 100.00decreased activityliver
3-Methylglutaconic acid increasedamnion fluid
Acylcarnitine0.000.00 increasedurineno data
Methylglutarylcarnitine (C6DC) increasedblood
MRI, brain, abnormalities -
Sebacic acid normal-increasedurine
Suberic acid normal-increasedurine
Glutaric acid2.00100.00 mmol/mol creatinineurine
MRI, brain, white matter abnormalities -
Literature
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