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Disease	3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
Synonym	3-HYDROXY-3-METHYLGLUTARIC ACIDEMIA; LEUCINE METABOLISM, DEFECT IN, HMG-CoA LYASE DEFICIENCY
OMIM	246450 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	3-hydroxy-3-methylglutaryl CoA lyase, Hydroxymethylglutaryl-CoA lyase Detailed enzyme information on www.expacy.ch
Gene locus	1pter-p33 Detail information to gene locus by the National Center for Biotechnology Information NCBI: 3-hydroxy-3-methylglutaryl-Coenzyme A lyase
genetests.org	search search on genetest.org by MIM 246450 search search on genetest.org by 3-hydroxy-3-methylglutaryl-CoA+lyase+deficiency Testing - View a listing of laboratories that provide clinical testing for this disorder rare (>40 cases) autosomal recessive relatively common in Arabic populations
Clinical symptoms	anemia cardiomyopathy cerebral atrophy coma dehydration early death hemiparesis/hemiparetic cerebral palsy hyperammonemia hypoglycemia hypotonia lactic acidosis large liver lethargy, drowsiness, malaise or sleep disorder leukoencephalopathy macrocephaly (large calvaria, >2 SD for age) metabolic acidosis neutropenia (decreased neutrophils) onset, adult onset, infant onset, newborn Organic acids, urine pancreatitis seizures tachypnea, hyperpnea, dyspnea, respiratory distress vomiting
Abnormal Findings in amnion fluid	3-Methylglutaconic acid \| Significant : - increased
Abnormal Findings in blood	Ammonia Normal: 25.00-80.00 µmol/l \| Significant : 60.00-2000.00 µmol/l Lactate, fed state Normal: 0.90-1.80 mmol/l \| Significant : 1.00-6.00 mmol/l Methylglutarylcarnitine (C6DC) \| Significant : - increased pH Normal: 7.35-7.45 no unit \| Significant : 7.00-7.40 no unit
Abnormal Findings in fibroblasts	3-Hydroxy-3-methylglutaryl-CoA lyase Normal: -100.00 % activity \| Significant : - decreased activity
Abnormal Findings in leucocytes	3-Hydroxy-3-methylglutaryl-CoA lyase Normal: -100.00 % activity \| Significant : - decreased activity
Abnormal Findings in liver	3-Hydroxy-3-methylglutaryl-CoA lyase Normal: -100.00 % activity \| Significant : - decreased activity
Abnormal Findings in serum	Glucose, >1 d Normal: 2.80-5.00 mmol/l \| Significant : 0.20-1.00 mmol/l Transaminases Normal: 10.00-30.00 U/l \| Significant : 30.00-2000.00 U/l
Abnormal Findings in urine	3-Hydroxy-3-methylglutaric acid Normal: 6.20-49.70 mmol/mol creatinine \| Significant : 200.00-11000.00 mmol/mol creatinine 3-Hydroxyisovaleric acid Normal: 0.00-46.00 mmol/mol creatinine \| Significant : 60.00-4000.00 mmol/mol creatinine 3-Methylcrotonylglycine Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 0.00-450.00 mmol/mol creatinine 3-Methylglutaconic acid Normal: 0.00-9.00 mmol/mol creatinine \| Significant : 140.00-10000.00 mmol/mol creatinine 3-Methylglutaric acid Normal: 0.00-7.00 mmol/mol creatinine \| Significant : 14.00-1000.00 mmol/mol creatinine Acylcarnitin \| Significant : - increased Adipic acid Normal: 0.00-34.30 mmol/mol creatinine \| Significant : 12.00-50.00 mmol/mol creatinine Carnitine \| Significant : - decreased
Treatment	avoidance of fasting high-carbohydrate diet L-carnitine leucine-restricted diet low-fat diet low-protein diet
Literature	There are 13 publications available. Click here to open the relevant 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFIC
Ramedis Case reports with long term followup	There are 15 patient data available. Click here to open the list of 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY patients documented in Ramedis database