|
3-Methylglutaconic aciduria type 2
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Expression of human monolysocardiolipin acyltransferase-1 improves mitochondrial function in Barth syndrome lymphoblasts.
|
29563154 |
2018 |
|
Abetalipoproteinemia
|
0.050 |
Biomarker
|
disease |
BEFREE |
Three patients with VLCAD or LCHAD/MTP deficiency developed recurrent rhabdomyolysis or cardiomyopathy, and one patient died of cardiomyopathy.
|
29519241 |
2018 |
|
Abetalipoproteinemia
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in the MTP genes (HADHA and HADHB) cause MTP deficiency, a rare autosomal recessive metabolic disorder characterized by phenotypic heterogeneity ranging from severe, early-onset, cardiac disease to milder, later-onset, myopathy and neuropathy.
|
30682426 |
2019 |
|
Abetalipoproteinemia
|
0.050 |
Biomarker
|
disease |
BEFREE |
However, the high incidence of the gestational complications acute fatty liver of pregnancy and hemolysis, elevated liver enzymes, and low platelets syndrome observed in mothers carrying a LCHAD/MTP-deficient child and the recent reports of fetal hydrops due to cardiomyopathy in MTP deficiency, as well as the high incidence of intrauterine growth retardation in children with LCHAD/MTP deficiency, suggest that FAO may play an important role during fetal development.
|
15845636 |
2005 |
|
Abetalipoproteinemia
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Altogether, our results strongly suggest that, due to variable effects of HADHA and HADHB mutations on MTP abundance and residual activity, improvement of MTP deficiency in response to bezafibrate was achieved in a subset of responsive genotypes.
|
26109258 |
2016 |
|
Abetalipoproteinemia
|
0.050 |
Biomarker
|
disease |
BEFREE |
The 13 articles reported on 11 patient groups, including 174 people with LCHAD deficiency, 18 people with MTP deficiency and 12 people with undifferentiated LCHAD/MTP deficiency.
|
31730477 |
2019 |
|
Abnormal amniotic fluid
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormal vision
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of retinal pigmentation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Absent reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acidosis, Lactic
|
0.110 |
Biomarker
|
phenotype |
BEFREE |
Lactic acidosis and mitochondrial abnormalities have been reported in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
|
8938697 |
1996 |
|
Acidosis, Lactic
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acute fatty liver of pregnancy
|
0.360 |
Biomarker
|
disease |
BEFREE |
We found elevated blood long-chain hydroxyacylcarnitine species in a carrier of LCHAD deficiency at 31weeks of pregnancy with a LCHAD deficient fetus during acute fatty liver of pregnancy-like liver involvement, but had been within the normal range at 25weeks of pregnancy.
|
20363656 |
2010 |
|
Acute fatty liver of pregnancy
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
However, the high incidence of the gestational complications acute fatty liver of pregnancy and hemolysis, elevated liver enzymes, and low platelets syndrome observed in mothers carrying a LCHAD/MTP-deficient child and the recent reports of fetal hydrops due to cardiomyopathy in MTP deficiency, as well as the high incidence of intrauterine growth retardation in children with LCHAD/MTP deficiency, suggest that FAO may play an important role during fetal development.
|
15845636 |
2005 |
|
Acute fatty liver of pregnancy
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that mutations in the LCHAD domain of the trifunctional protein alpha subunit in affected offspring are associated with maternal acute fatty liver of pregnancy.
|
7846063 |
1995 |
|
Acute fatty liver of pregnancy
|
0.360 |
Biomarker
|
disease |
BEFREE |
Pregnancy with an LCHAD-deficient fetus is often complicated in the third trimester by liver disease, particularly acute fatty liver of pregnancy.
|
15857179 |
2005 |
|
Acute fatty liver of pregnancy
|
0.360 |
Biomarker
|
disease |
BEFREE |
This review explores the causative relationship of a fetal disorder of mitochondrial fatty acid oxidation, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, and the serious maternal liver diseases of pregnancy-preeclampsia, the HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet counts), and acute fatty liver of pregnancy.
|
10331463 |
1999 |
|
Acute fatty liver of pregnancy
|
0.360 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.
|
28515471 |
2017 |
|
Acute fatty liver of pregnancy
|
0.360 |
Biomarker
|
disease |
BEFREE |
The purpose of this study was to examine patients with AFLP and their offspring to determine if there were women with AFLP who were heterozygous for the FAO defect, long chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.
|
8931405 |
1996 |
|
Acute respiratory distress
|
0.010 |
Biomarker
|
disease |
BEFREE |
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
|
14605499 |
2003 |
|
Adrenogenital Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
Alkalosis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Clinical, biochemical and pathological findings in a boy aged 28 months who died with classical COX-deficientLSassociatedwithmtG8363Aisdescribedindetail.Hyperlactataemia,LCHAD-like organic acids profile and respiratory alkalosis(pH7.47,pCO2 4.9 mmHg, HCO3 3.0 mmol/l) were observed.
|
18176892 |
2007 |
|
alpha 1-Antitrypsin Deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
The proteome of presymptomatic ALS mice motor neurons also revealed a peculiar metabolic signature with upregulation of most energy-transducing enzymes, including the fatty acid oxidation (FAO) and the ketogenic components HADHA and ACAT2, respectively.
|
29500423 |
2018 |
|
Babinski Reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|