Visit Metagene.de!
Summary
LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (LCAD)
ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF
201460
OMIM = Online Medalian Inheritance of Men
2q34-q35
  • avoidance of fasting
rare
autosomal recessive
LCAD is a homotetramer in the matrix of the cell some LCAD patients have been shown to be deficient in the VLCAD enzyme
symptoms
behavior, autism or autistic-like
brown colored urine
cardiomyopathy
cirrhosis or fibrosis of liver
coma
diarrhea
early death
edema
encephalopathy
feeding difficulties, poor feeding
hepatomegaly (large liver)
hypoglycemia
hypotonia
myopathy
onset, childhood
onset, neonatal
peripheral neuropathy
preeclampsia, maternal
retinal or macular degeneration
rhabdomyolysis
steatorrhea
tachypnea, hyperpnea, dyspnea, respiratory distress
vomiting
laboratory finding
Long-chain acyl-CoAs 0.000.00increasedurine
Long chain dicarboxylic acids 0.000.00increasedurine
Long chain acyl carnitines 0.000.00increasedurine
Suberic acid2.0022.000.002.00mmol/mol creatinineurinechildhood
Sebacic acid4.0022.000.002.00mmol/mol creatinineurinechild
Acylcarnitine/carnitine ratio0.7020.00 no uniturine
Carnitine10.0020.0040.0060.00-Ámol/lplasma
D-Glucose0.503.002.805.00mmol/lserum
L-Lactic acid1.006.000.901.80mmol/lblood
pH7.007.407.357.45no unitblood
Transaminases30.002000.0010.0030.00U/lserum
Myoglobin0.000.00 increasedurineno data
Creatine kinase 40.00400.00increasedserum
Uric acid 0.605.50increasedserum
Long chain acyl-CoA dehydrogenase5.0020.00 100.00% of normalfibroblasts
Long chain acyl carnitines 0.007.00increasedplasma
Acylcarnitine0.000.00 increasedurineno data
EEG abnormalities -
ECG abnormalities -
Literature
Hendrickx Jet al.Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 yearsEur J Pediatr1570919-9231998
Farber SA lipid metabolic disorder - disseminated lipogranulomatosis - a syndrome with similarity to and important differences from Niemann-Pick and Hand-Sch+€ller-Christian diseaseAm J Dis Child840499-5001952
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Hendrickx Jet al.Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and IIAm J Hum Genet6401541-15491999
Schuchman EHDesnick RJNiemann-Pick disease types A and B: acid sphingomyelinase deficienciesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202601-26241995