| 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY (HMGCLD) | |
| 3-HYDROXY-3-METHYLGLUTARIC ACIDEMIA; LEUCINE METABOLISM, DEFECT IN, HMG-CoA LYASE DEFICIENCY | |
|
246450
OMIM = Online Mendelian Inheritance of Men | |
|
20 | |
| Hydroxymethylglutaryl-CoA lyase, mitochondrial | |
| 4.1.3.4 | |
| rare (<1:200000) autosomal recessive mutation in the HMGCL gen relatively common in Arabic populations | |
| Laboratory findings | 3-Hydroxyisovalerylcarnitine (C5-OH) inc (plasma) Ammonia normal/inc (blood) 3-Hydroxy-3-methylglutaric acid inc (urine) 3-Methylglutaconic acid inc (urine) 3-Hydroxyisovaleric acid inc (urine) 3-Hydroxy-3-methylglutaryl-CoA lyase dec (fibroblasts) 3-Hydroxy-3-methylglutaryl-CoA lyase dec (liver) 3-Hydroxy-3-methylglutaryl-CoA lyase dec (leucocytes) 3-Methylcrotonylglycine normal/inc (urine) 3-Methylglutaconic acid inc (amniotic fluid) 3-Methylglutaric acid inc (urine) Acylcarnitine (C2) inc (urine) Adipic acid inc (urine) D-Glucose dec (serum) Free fatty acids normal/inc (serum) Glutaric acid normal/inc (urine) L-Carnitine decreased (urine) L-Lactic acid normal/inc (blood) Methylglutarylcarnitine (C6DC) inc (blood) pH normal/dec (blood) Sebacic acid normal/inc (urine) Suberic acid normal/inc (urine) Transaminases (ASAT/ALAT) normal/inc (serum) |
| Symptoms | hepatomegaly (large liver) hyperammonemia vomiting white matter changes, abnormalities basal ganglia, changes, lesions, calcifications (MRI, CT) cardiomyopathy cardiomyopathy, dilated cerebral atrophy coma hypoketotic hypoglycemia hypotonia lactic acidosis lethargy, drowsiness, apathy liver involvement or dysfunction metabolic acidosis pancreatitis psychomotor retardation seizures strokelike episodes tachypnea, hyperpnea, dyspnea, hyperventilation anemia cardiac arrhythmia, dysrhythmia dehydration dysarthria early death episodic course (clinical symptoms) hemiparesis/hemiplegia/hemiparetic cerebral palsy hypoglycemia leukoencephalopathy macrocephaly (large calvaria, >2 SD for age) MRI, brain, abnormalities [-] MRI, brain, white matter abnormalities [-] neutropenia (decreased neutrophils) no clinical symptoms (probably) onset, adolescent onset, adulthood onset, childhood onset, infancy onset, neonatal Organic acids, urine paresis |