Long Chain Acyl-coa Dehydrogenase Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy.

Genes related to Long Chain Acyl-coa Dehydrogenase Deficiency

ACADL

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Clinical Features

Top most frequent phenotypes and symptoms related to Long Chain Acyl-coa Dehydrogenase Deficiency

Generalized hypotonia
Feeding difficulties
Hepatomegaly
Myopathy
Vomiting
Myalgia
Hypertrophic cardiomyopathy
Autistic behavior
Lethargy
Hepatic steatosis

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Long Chain Acyl-coa Dehydrogenase Deficiency Is also known as lcad.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Long Chain Acyl-coa Dehydrogenase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ACADL Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories (United States). ACADL Specificity 100 % Genes 100 %
ACADL Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories (United States). ACADL Specificity 100 % Genes 100 %
ACADL Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). ACADL Specificity 100 % Genes 100 %
ACADL Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). ACADL Specificity 100 % Genes 100 %
Fatty Acid Oxidation Panel (MitomeNGS). By Baylor Miraca Genetics Laboratories (United States). SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, ACADL, ACADM, ACADS, ACADVL Specificity 6 % Genes 100 %
Comprehensive Mitochondrial Metabolic Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...) View the complete list with 173 more genes Panel complete gene list BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A, TK2, TSFM, TUFM, UQCRB, LPIN1, GFM1, MRPS16, SLC25A20, SLC25A19, MRPS22, PUS1, LRPPRC, NDUFAF5, COX4I2, COQ8A, TFB1M, LARS2, NDUFA13, RRM2B, SARS2, PDSS1, NAGS, ATPAF2, NDUFAF1, MMAA, MMAB, NUBPL, NDUFA11, AARS2, NDUFAF4, FARS2, PDHX, RARS2, ACAD9, COX10, COX15, COX4I1, COX6B1, COX7A1, LMBRD1, PDSS2, CPT1A, ETHE1, CPT1B, CPT2, YARS2, TACO1, MMACHC, MARS2, MMADHC, COQ2, COQ9, TRMU, DARS2, TTC19, SDHAF2, TMEM70, NARS2, C12orf65, FOXRED1, NDUFAF2, DGUOK, DLAT, DLD, FASTKD2, UQCRQ, MTFMT, ISCU, NDUFAF3, TYMP, AGL, SDHAF1, ETFA, ETFB, ETFDH, G6PC, SLC37A4, GAA, GBE1, GYS1, GYS2, HADHA, HADHB, HLCS, IVD, KARS, ARG1, MCCC1, MCCC2, MPI, MPV17, MRRF, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MTRR, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MMUT, NDUFA1, NDUFA10, NDUFA2, NDUFA7, NDUFA8, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, OPA1, OPA3, ATP5F1E, ACACA, ACACB, OTC, PC, PCCA, PCCB, ACADL, PDHA1, PDHB, PFKM, PGAM2, ACADM, AUH, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, POLG, POLG2, ACADVL, PDP1, ACAT1, PYGL, PYGM Specificity 1 % Genes 100 %
Fatty Acid Oxidation Deficiency. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HSD17B10, HADHA, HADHB, HMGCL, HMGCS2, ACADL, ACADM , (...) View the complete list with 2 more genes Panel complete gene list SLC22A5, TAZ, LPIN1, SLC25A20, ACAD9, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HSD17B10, HADHA, HADHB, HMGCL, HMGCS2, ACADL, ACADM, ACADS, ACADVL Specificity 5 % Genes 100 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication). By ARUP Laboratories, Molecular Genetics and Genomics (United States). BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TWNK, TIMM8A , (...) View the complete list with 130 more genes Panel complete gene list BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TWNK, TIMM8A, TK2, TSFM, TUFM, UQCRB, WFS1, GFM1, MRPS16, SLC25A20, SLC25A19, MRPS22, PINK1, PUS1, LRPPRC, NDUFAF5, APTX, COX4I2, COQ8A, MFN2, LARS2, RRM2B, PDSS1, ATPAF2, NDUFAF1, SLC25A22, CYCS, NDUFA11, NDUFAF4, PDHX, RARS2, ACAD9, COX10, COX15, COX6B1, PDSS2, CPT1A, ETHE1, CPT2, COQ2, COQ9, TRMU, DARS2, TMEM70, DBT, NDUFAF2, DGUOK, DLAT, DLD, FASTKD2, UQCRQ, DNM1L, ISCU, NDUFAF3, PREPL, DNAJC19, TYMP, SDHAF1, ETFA, ETFB, ETFDH, FH, FXN, GFER, HADH, ABCB7, HADHA, HADHB, HMGCL, HMGCS2, HSPD1, MCCC2, MPV17, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND2, MT-ND3, MT-ND4L, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, ASS1, NDUFA1, NDUFA2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, OXCT1, PC, PCK2, ACADL, PDHA1, PDHB, ACADM, ACADS, POLG, POLG2, ACADVL, PPM1B, PDP1, ACAT1, BCKDHA, BCKDHB Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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