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Summary
LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD)
LCHAD DEFICIENCY
609016
OMIM = Online Medalian Inheritance of Men
5
2p23.3
  • corticosteroids
  • high-carbohydrate diet
  • L-carnitine
  • low-fat diet
  • medium-chain triglycerides (MCT)
  • riboflavin
rare (1:500000 in Sweden)
autosomal recessive
symptoms
blindness, visual loss, visual impairment
brown colored urine
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, mixed type
coma
diarrhea
early death
encephalopathy
failure to thrive
feeding difficulties, poor feeding
HELLP syndrome
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
hypotonia
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
liver failure
liver involvement or dysfunction
maternal acute fatty liver of pregnancy
metabolic acidosis
microcephaly (<2 SD for age)
motor retardation
myopathy
neurological deterioration
onset, childhood
onset, infancy
onset, neonatal
Organic acids, plasma
Organic acids, urine
pericardial effusion
peripheral neuropathy
preeclampsia, maternal
retinitis pigmentosa
retinopathy
rhabdomyolysis
seizures
speech development, delayed, abnormal
vomiting
laboratory finding
Glucose0.303.003.305.50mmol/lserum
Carnitine10.0020.0035.0055.00-Ámol/lserum
Transaminases50.00200.0010.0030.00U/lserum
L-Lactic acid2.5044.000.901.80mmol/lblood
3-Hydroxyacyl-CoA dehydrogenase 0.170.701.12nmol/mg/minfibroblasts
3-Hydroxyadipic acid 4.0044.00increasedurine
3-Hydroxysuberic acid 0.000.00increasedurine
3-Hydroxybutyric acid 4.0048.00decreasedplasma
Creatine kinase 40.00400.00increasedserum
Myoglobin0.000.00 increasedurineno data
pH7.107.307.357.45no unitblood
Long chain acyl carnitines 0.007.00increasedplasma
Ammonia 25.0080.00normal/increasedblood
3-Hydroxysebacic acid 0.107.00increasedurine
Long-chain 3-hydroxyacyl-CoA dehydrogenase0.000.00 increasedurineno data
Dicarboxylic acids0.000.00 increasedurineno data
3-Hydroxypalmitoylcarnitine (C16-OH) increasedblood
3-Hydroxystearoylcarnitine (C18-OH) increasedblood
Oleoylcarnitine (C18:1) increasedblood
3-Hydroxyoleoylcarnitine (C18:1-OH) increasedblood
3-Hydroxyhexadecenoyl (C16:1-OH) increasedblood
Literature
Theda ChK+Âhler W, Moser A, Moser HDietary treatment of adrenoleukodystrophy. Preliminary results of a long-term studyMonatschr Kinderheilk1420850-8561994
La Du BNAlkaptonuriaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1391371-13861995
Sweeney RT,Davis GJ, Noonan JACardiomyopathy of unknown etiology: Barth syndrome unrecognizedCongenit Heart Dis36443-4482008
Levy HLet al.Disorders of histidine metabolismThe metabolic and molecular bases of inherited disease, 6/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.00563-1989
Jequier Gygax M,et al.Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduriaEur J Pediatr002008
Barth PGHoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RBH, Trefz FK, Reimann G, HartunL-2-Hydroxyglutaric acid Acidemia: A Novel Inherited Neurometabolic DiseaseAnnals of Neurology32166-711992
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hu WKet al.Fatal congenital systemic juvenile xanthogranuloma with liver failurePediatr Dev Pathol7171-762004
Verhoeven NMet al.A newborn with severe liver failure, cardiomyopathy and transaldolase deficiencyJ Inherit Metab Dis282169-1792005
Mochel Fet al.Respiratory chain defects may present only with hypoglycemiaJ Clin Endocrinol Metab9063780-37852005
McKinney JTet al.Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase geneMol Genet Metab822112-1202004
Fenton WARosenberg LEInherited disorders of cobalamin transport and metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203129-32491995
Carmel Ret al.Food cobalamin malabsorption occurs frequently in patients with unexplained low serum cobalamin levelsArch Intern Med14801715f1988
Davidzon Get al.POLG mutations and Alpers syndromeAnn Neurol576921-9232005
Spinazzola A,et al.Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutationArch Neurol6581108-11132008
Guffon Net al.A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamateJ Inher Met Dis18061-651995
Zambrano Eet al.Total parenteral nutrition induced liver pathology: an autopsy series of 24 newborn casesPediatr Dev Pathol75425-4322004
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Reimao S,et al.3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adultJ Inherit Metab Dis002009
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Welsh MJet al.Cystic fibrosisThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31273799-38761995
Angius Aet al.Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutationsEur J Pediatr1570128-1291998
Berger PSWood PADisrupted blastocoele formation reveals a critical developmental role for long-chain acyl-CoA dehydrogenaseMol Genet Metab824266-2722004
Barth PGHoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RBH, Trefz FK, Reimann G, HartunL-2-Hydroxyglutaric acid Acidemia: A Novel Inherited Neurometabolic DiseaseAnnals of Neurology32166-711992
Aynsley-Green Aet al.Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinemic hypoglycemiaArch Dis Child560496-5081981
Mudd SHLevy HL, Skovby FDisorders of transsulfurationThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101279-13271995
Holmberg CPerheentupa JCongenital Na+ diarrhea: a new type of secretory diarrheaJ Pediatr106056-621985
Endres WSeibold HRenal excretion of cysthationine and creatinine in humans at different agesClin Chim Acta8404251978
Barth PGHoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RBH, Trefz FK, Reimann G, HartunL-2-Hydroxyglutaric acid Acidemia: A Novel Inherited Neurometabolic DiseaseAnnals of Neurology32166-711992
Lukkarinen Met al.Varicella and varicelle immunity in patients with lysinuric protein intoleranceJ Inherit Metab Dis210103-1111998
Fenton WARosenberg LEInherited disorders of cobalamin transport and metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.203129-32491995
Segal SThier SOCystinuriaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31173581-36011995