3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.



Input patient's signs and symptoms


Narrow down the case reports



Total: 37 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(32.9%)		 10927963
 3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: report of one case.
Lee C, Tsai FJ, Wu JY, Peng CT, Tsai CH, Hwu WL, Wang TR, Millington DS.
Acta Paediatr Taiwan. 1999;40(6):445-7.
Metabolic acidosis Hepatomegaly
Females Gas Chromatography-Mass Spectrometry Homo sapiens Infant Meglutol Reye Syndrome
1
(32.9%)		 9658458
 [3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].
Eiris J, Ribes A, Fernandez-Prieto R, Rodriguez-Garcia J, Rodriguez-Segade S, Castro-Gago M.
Rev Neurol. 1998;26(154):911-4.
Lethargy Hepatic steatosis Acidosis Hepatomegaly
HMGCL
Acidosis Apnea Comatose Differential Diagnosis Fatty Liver Females Fibroblasts Hepatomegaly Homo sapiens Hypoglycemia Meglutol Oxo-Acid-Lyases Phenotype Reye Syndrome
3
(25.6%)		 6489380
 A child with acute pancreatitis and recurrent hypoglycemia due to 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Wilson WG, Cass MB, Sovik O, Gibson KM, Sweetman L.
Eur J Pediatr. 1984;142(4):289-91.
Pancreatitis Recurrent hypoglycemia
HMGCL
Acute Disease Amino Acids Aspartate Transaminase Bicarbonates Females Fibroblasts Genetic Carrier Screening Homo sapiens Hypoglycemia Infant Lymphocyte Oxo-Acid-Lyases Pancreatitis
4
(23.4%)		 21918856
 A series of pregnancies in women with inherited metabolic disease.
Langendonk JG, Roos JC, Angus L, Williams M, Karstens FP, de Klerk JB, Maritz C, Ben-Omran T, Williamson C, Lachmann RH, Murphy E.
J Inherit Metab Dis. 2012;35(3):419-24.
Homocystinuria Methylmalonic acidemia
OTC
Adult Females Homo sapiens Metabolic Diseases Obstetric Delivery Oxo-Acid-Lyases Pregnancy Pregnancy Complications Pregnancy Outcome Risk Time Factors
5
(21.6%)		 29565174
 [3-hydroxy-3-methylglutaryl-CoA lyase deficiency: a case report and literature review].
Yilmaz O, Kitchen S, Pinto A, Daly A, Gerrard A, Hoban R, Santra S, Sreekantam S, Frost K, Pigott A, MacDonald A.
Nutr Hosp. 2018;35(1):237-244.
Metabolic acidosis Vomiting
Acetyl-CoA C-Acetyltransferase Acidosis Amino Acid Metabolism, Inborn Errors Child, Preschool Diet, Protein-Restricted Enteral Nutrition Females Gastrostomy Homo sapiens Hypoglycemia
5
(21.6%)		 27284350
 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report.
Hao X, Wang J, Liu S, Chen Y, Zhang Y, Hao Y.
Exp Ther Med. 2016;11(6):2573-2576.
Seizure Metabolic acidosis Vomiting
HMGCL
5
(21.6%)		 26997609
(5702463)
 The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Pipitone A, Raval DB, Duis J, Vernon H, Martin R, Hamosh A, Valle D, Gunay-Aygun M.
Am J Med Genet A. 2016;170(6):1600-2.
Metabolic acidosis Vomiting
HMGCL
Acetyl-CoA C-Acetyltransferase Adult Amino Acid Metabolism, Inborn Errors Biological Markers Disease Management Females Homo sapiens Infant, Newborn Male Obstetric Delivery Perinatal Care Pregnancy Pregnancy Complications Pregnancy Outcome
5
(21.6%)		 23705938
(3685558)
 A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.
Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M.
Ital J Pediatr. 2013;39:33.
Lethargy Metabolic acidosis Vomiting
HMGCL
Acetyl-CoA C-Acetyltransferase Acidosis Acute Disease Amino Acid Metabolism, Inborn Errors Glutarates Homo sapiens Hypoglycemia Infant, Newborn Male Meglutol
5
(21.6%)		 21575345
 [Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria].
Ma YY, Song JQ, Wu TF, Liu YP, Xiao JX, Jiang YW, Yang YL.
Zhongguo Dang Dai Er Ke Za Zhi. 2011;13(5):392-5.
Ketosis Vomiting
Acetyl-CoA C-Acetyltransferase Amino Acid Metabolism, Inborn Errors Child Hereditary Central Nervous System Demyelinating Di... Homo sapiens Male
5
(21.6%)		 3767322
 Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Zoghbi HY, Spence JE, Beaudet AL, O'Brien WE, Goodman CJ, Gibson KM.
Ann Neurol. 1986;20(3):367-9.
Hemiparesis Acidosis Vomiting
Brain Brain Diseases Cultured Cells Fibroblasts Homo sapiens Infant Lymphocyte Male Oxo-Acid-Lyases
        

Phenotype(s) retrieved from Orphanet

    Total: 54

HPO ID Term Frequency
HP:0001942 Metabolic acidosis Very frequent (99-80%)
HP:0001958 Nonketotic hypoglycemia Very frequent (99-80%)
HP:0001987 Hyperammonemia Very frequent (99-80%)
HP:0003344 3-Methylglutaric aciduria Very frequent (99-80%)
HP:0000741 Apathy Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001254 Lethargy Frequent (79-30%)
HP:0001903 Anemia Frequent (79-30%)
HP:0001988 Recurrent hypoglycemia Frequent (79-30%)
HP:0002039 Anorexia Frequent (79-30%)
HP:0002149 Hyperuricemia Frequent (79-30%)
HP:0002151 Increased serum lactate Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002353 EEG abnormality Frequent (79-30%)
HP:0002572 Episodic vomiting Frequent (79-30%)
HP:0002789 Tachypnea Frequent (79-30%)
HP:0002910 Elevated hepatic transaminase Frequent (79-30%)
HP:0006561 Lipid accumulation in hepatocytes Frequent (79-30%)
HP:0006582 Reye syndrome-like episodes Frequent (79-30%)
HP:0008151 Prolonged prothrombin time Frequent (79-30%)
HP:0000952 Jaundice Occasional (29-5%)
HP:0000969 Edema Occasional (29-5%)
HP:0000980 Pallor Occasional (29-5%)
HP:0001256 Intellectual disability, mild Occasional (29-5%)
HP:0001259 Coma Occasional (29-5%)
HP:0001265 Hyporeflexia Occasional (29-5%)
HP:0001298 Encephalopathy Occasional (29-5%)
HP:0001336 Myoclonus Occasional (29-5%)
HP:0001824 Weight loss Occasional (29-5%)
HP:0001882 Leukopenia Occasional (29-5%)
HP:0001894 Thrombocytosis Occasional (29-5%)
HP:0001944 Dehydration Occasional (29-5%)
HP:0001945 Fever Occasional (29-5%)
HP:0001974 Leukocytosis Occasional (29-5%)
HP:0002014 Diarrhea Occasional (29-5%)
HP:0002104 Apnea Occasional (29-5%)
HP:0002342 Intellectual disability, moderate Occasional (29-5%)
HP:0002521 Hypsarrhythmia Occasional (29-5%)
HP:0002615 Hypotension Occasional (29-5%)
HP:0002919 Ketonuria Occasional (29-5%)
HP:0010864 Intellectual disability, severe Occasional (29-5%)
HP:0012378 Fatigue Occasional (29-5%)
HP:0000252 Microcephaly Very rare (4-1%)
HP:0001251 Ataxia Very rare (4-1%)
HP:0001257 Spasticity Very rare (4-1%)
HP:0001260 Dysarthria Very rare (4-1%)
HP:0001325 Hypoglycemic coma Very rare (4-1%)
HP:0001644 Dilated cardiomyopathy Very rare (4-1%)
HP:0001695 Cardiac arrest Very rare (4-1%)
HP:0001735 Acute pancreatitis Very rare (4-1%)
HP:0002045 Hypothermia Very rare (4-1%)
HP:0002352 Leukoencephalopathy Very rare (4-1%)
HP:0011099 Spastic hemiparesis Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 19

HPO ID Term # of case reports
HP:0001942 Metabolic acidosis 5
HP:0001943 Hypoglycemia 4
HP:0000256 Macrocephaly 2
HP:0001985 Hypoketotic hypoglycemia 2
HP:0001987 Hyperammonemia 2
HP:0001250 Seizures 1
HP:0001297 Stroke 1
HP:0001298 Encephalopathy 1
HP:0001638 Cardiomyopathy 1
HP:0001733 Pancreatitis 1
HP:0001735 Acute pancreatitis 1
HP:0001945 Fever 1
HP:0001958 Nonketotic hypoglycemia 1
HP:0001988 Recurrent hypoglycemia 1
HP:0002013 Vomiting 1
HP:0002156 Homocystinuria 1
HP:0002912 Methylmalonic acidemia 1
HP:0002919 Ketonuria 1
HP:0012120 Methylmalonic aciduria 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase 3155