Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

A mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood of hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and, frequently, cardiac involvement with arrhythmias and/or cardiomyopathy.



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Narrow down the case reports



Total: 38 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 10789927
 Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls.
Das AM, Fingerhut R, Wanders RJ, Ullrich K.
Eur J Pediatr. 2000;159(4):243-6.
Microcephaly
HADHA
c|SUB|G|1528|C;RS#:137852769
3-Hydroxyacyl CoA Dehydrogenases Cultured Cells DNA Mutational Analysis Electron Transport Fatal Outcome Fatty Acids Fibroblasts Homo sapiens Inborn Errors of Metabolism Infant Male Mitochondria Mutation
2
(17.5%)		 27769081
 An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
Erdol S, Ture M, Baytan B, Yakut T, Saglam H.
J Pediatr Hematol Oncol. 2016;38(8):661-662.
Pancytopenia Rhabdomyolysis
Acidosis Cardiomyopathies Creatine Kinase DNA Mutational Analysis Differential Diagnosis Homo sapiens Hypoglycemia Infant Lipid Metabolism, Inborn Errors Lymphohistiocytosis, Hemophagocytic Mitochondrial Myopathies Mitochondrial Trifunctional Protein Rhabdomyolysis
2
(17.5%)		 26896063
 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
Llorca-Cardenosa A, Catala-Mora J, Garcia-Cazorla A, Meavilla S, Castejon-Ponce E.
Arch Soc Esp Oftalmol. 2016;91(5):236-9.
Rhabdomyolysis
HADHA
Cardiomyopathies Child, Preschool Homo sapiens Lipid Metabolism, Inborn Errors Male Mitochondrial Myopathies Mitochondrial Trifunctional Protein Rhabdomyolysis
2
(17.5%)		 23835545
 When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex.
Anderson S, Brooks SS.
Neonatal Netw. 2013;32(4):262-73.
Hypoglycemia Myopathy
HADHA
3-Hydroxyacyl CoA Dehydrogenases Cardiomyopathies Differential Diagnosis Females Follow-Up Studies Homo sapiens Infant, Newborn Infant, Premature, Diseases Infant, Small for Gestational Age Lipid Metabolism, Inborn Errors Mitochondrial Myopathies Mitochondrial Trifunctional Protein Neonatal Nursing Rhabdomyolysis
2
(17.5%)		 21035315
 [EBV infection revealing a long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency in a 3-year-old boy].
Desbree A, Houdon L, Touati G, Djemili S, Choker G, Flodrops H.
Arch Pediatr. 2011;18(1):18-22.
Pigmentary retinopathy Muscle weakness
HADHA
c|SUB|G|1528|C;RS#:137852769
3-Hydroxyacyl CoA Dehydrogenases Child, Preschool Deficiency Diseases Epstein-Barr Virus Infections Homo sapiens Male
2
(17.5%)		 17143551
 Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Choi JH, Yoon HR, Kim GH, Park SJ, Shin YL, Yoo HW.
Int J Mol Med. 2007;19(1):81-7.
Lethargy Myopathy
HADHA HADHB
c|SUB|T|1689+2|G p|SUB|N|114|D;RS#:773157876 p|SUB|N|307|D;RS#:769558977 p|SUB|N|389|D rs769558977
Amino Acid Metabolism, Inborn Errors Amino Acid Sequence Base Sequence Child Child, Preschool DNA Mutational Analysis Females Homo sapiens Infant, Newborn Male Mitochondrial Trifunctional Protein Mitochondrial Trifunctional Protein, alpha Subunit Mitochondrial Trifunctional Protein, beta Subunit Molecular Sequence Data Multienzyme Complexes Mutation Sequence Homology, Amino Acid Tandem Mass Spectrometry
2
(17.5%)		 16163656
 [Hypoglycaemia without ketosis. A case report].
Ferraz C, Reis ME, Lopes MM, Cardoso ML, Barbosa CR.
Rev Neurol. 2005;41(6):349-53.
Muscle weakness
c|SUB|G|1528|C;RS#:137852769
3-Hydroxyacyl CoA Dehydrogenases Child, Preschool DNA Mutational Analysis Fatty Acids Homo sapiens Hypoglycemia Ketosis Lipid Metabolism, Inborn Errors Male Mitochondrial Trifunctional Protein Mitochondrial Trifunctional Protein, alpha Subunit Multienzyme Complexes Oxidation-Reduction Syndrome
2
(17.5%)		 12660866
 Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Russell-Eggitt IM, Leonard JV, Lund AM, Manoj B, Thompson DA, Morris AA.
Ophthalmic Genet. 2003;24(1):49-57.
Cataract Rhabdomyolysis
HADHA
3-Hydroxyacyl CoA Dehydrogenases Cataract Females Fluorescein Angiography Homo sapiens Peroxisomal Disorders
2
(17.5%)		 10076877
 Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
Otto LR, Boriack RL, Marsh DJ, Kum JB, Eng C, Burlina AB, Bennett MJ.
Am J Med Genet. 1999;83(1):3-5.
Myopathy
HADHA PTEN
p|SUB|P|246|L;RS#:587782350 rs587782350
3-Hydroxyacyl CoA Dehydrogenases Cardiomyopathies Child, Preschool Citrate (si)-Synthase Females Fibroblasts Genes, Dominant Homo sapiens Lipid Metabolism Missense Mutation PTEN Phosphohydrolase Phosphoric Monoester Hydrolases Syndrome Tumor Suppressor Proteins
2
(17.5%)		 8736409
 The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Pons R, Roig M, Riudor E, Ribes A, Briones P, Ortigosa L, Baldellou A, Gil-Gibernau J, Olesti M, Navarro C, Wanders RJ.
Pediatr Neurol. 1996;14(3):236-43.
Retinopathy Myopathy
c|SUB|G|1528|C
3-Hydroxyacyl CoA Dehydrogenases Brain Diseases Child, Preschool Homo sapiens Infant Liver Metabolic Diseases Mitochondria Mutation
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000613 Photophobia Very frequent (99-80%)
HP:0001943 Hypoglycemia Very frequent (99-80%)
HP:0001985 Hypoketotic hypoglycemia Very frequent (99-80%)
HP:0000512 Abnormal electroretinogram Frequent (79-30%)
HP:0000572 Visual loss Frequent (79-30%)
HP:0000577 Exotropia Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001639 Hypertrophic cardiomyopathy Frequent (79-30%)
HP:0001939 Abnormality of metabolism/homeostasis Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0009830 Peripheral neuropathy Frequent (79-30%)
HP:0000488 Retinopathy Occasional (29-5%)
HP:0000532 Abnormal chorioretinal morphology Occasional (29-5%)
HP:0000533 Chorioretinal atrophy Occasional (29-5%)
HP:0000545 Myopia Occasional (29-5%)
HP:0000662 Nyctalopia Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001290 Generalized hypotonia Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0002611 Cholestatic liver disease Occasional (29-5%)
HP:0007703 Abnormality of retinal pigmentation Occasional (29-5%)
HP:0011968 Feeding difficulties Occasional (29-5%)
HP:0030856 Posterior staphyloma Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 25

HPO ID Term # of case reports
HP:0001638 Cardiomyopathy 6
HP:0000580 Pigmentary retinopathy 3
HP:0001943 Hypoglycemia 3
HP:0000488 Retinopathy 2
HP:0003201 Rhabdomyolysis 2
HP:0000519 Developmental cataract 1
HP:0000545 Myopia 1
HP:0000829 Hypoparathyroidism 1
HP:0001324 Muscle weakness 1
HP:0001394 Cirrhosis 1
HP:0001396 Cholestasis 1
HP:0001508 Failure to thrive 1
HP:0001942 Metabolic acidosis 1
HP:0001985 Hypoketotic hypoglycemia 1
HP:0002090 Pneumonia 1
HP:0002901 Hypocalcemia 1
HP:0002905 Hyperphosphatemia 1
HP:0003198 Myopathy 1
HP:0006846 Acute encephalopathy 1
HP:0008160 3-hydroxydicarboxylic aciduria 1
HP:0010880 Increased nuchal translucency 1
HP:0011506 Choroidal neovascularization 1
HP:0031864 Bacteremia 1
HP:0032368 Acidemia 1
HP:0100601 Eclampsia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha 3030