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Summary
RESPIRATORY CHAIN DEFICIENCIES
  • coenzyme Q10
  • dichloroacetate
  • ketogenic diet
  • no specific treatment
  • riboflavin
  • supportive/symptomatic therapy
  • vitamin B1 (thiamine)
  • vitamin C (ascorbate)
  • vitamin K3 (menadione)
rare
autosomal recessive
autosomal dominant
X-linked maternal
sporadic
symptoms
anemia
ataxia
brown colored urine
cardiomyopathy
cataract
cholestasis
cortical or cerebral atrophy
decreased muscle volume, atrophy or hypoplasia
defect of adrenal gland or function
defect of thyroid gland
diarrhea
encephalopathy
epilepsy
exercise intolerance
failure to thrive
Fanconi syndrome
growth retardation
hair, abnormal (thin, brittle, fine)
headache (severe, recurrent or occipital, migraine)
hearing defect, deafness
heart involvement
hemiparesis/hemiparetic cerebral palsy
hepatomegaly (large liver)
hyperammonemia
hypertonia, spasticity
hypoglycemia
hypotonia
ketosis, ketoacidosis
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
liver failure
liver involvement or dysfunction
mental retardation
metabolic acidosis
motor retardation
myoclonus
myopathy
neurological deterioration
neutropenia (decreased neutrophils)
obstructive airway disease
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
pain, muscle
pancreatic insufficiency
pancreatitis
pigmentation, skin and sclera
ptosis (drooping eyelid)
renal failure, acute/chronic
retinitis pigmentosa
rhabdomyolysis
strokelike episodes
tubulopathy
vomiting
laboratory finding
ECG abnormalities -
Creatine kinase increasedserum
Transaminases increasedserum
Pyruvic acid increasedblood
3-Hydroxybutyrate/Acetoacetate
Lactate/Pyruvate ratio no unitblood
Complex IV activity
Complex III activity
Complex II activity
Complex I activity
MRI, brain, abnormalities -
Insulin
Glucose tolerance, impaired serum
D-Glucose decreasedblood
Myoglobin0.000.00 increasedurineno data
Ketone bodies0.000.00 +/++urineno data
Ketone bodies increasedblood
L-Lactic acid increasedblood
Ethylmalonic acid0.000.00 increasedurineno data
3-Methylglutaconic acid0.000.00 increasedurineno data
Literature
Kohlsch+€tter Aet al.A familiar progressive neurodegenerative disease with 2-oxoglutaric aciduriaEur J Pediatr138032-371982
Scholl-Burgi SSanter R, Ehrich JHLong-term outcome of renal glucosuria type 0: the original patient and his natural historyNephrol Dial Transplant1992394-23962004
Belaidi AA,Schwarz GMolybdenum cofactor deficiency: metabolic link between taurine and S-sulfocysteineAdv Exp Med Biol776013-192013
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
McKinney JTet al.Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase geneMol Genet Metab822112-1202004
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
Nishino Iet al.Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)Nature4060906-9102000
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
Relinque B,et al.Isolated sulfite oxidase deficiencyJ Neonatal Perinatal Med002015
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
Reitter BDeflazacort vs. prednisone in Duchenne muscular dystrophy: trends of an ongoing studyBrain Dev Suppl17039-431995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hirschhorn RGlycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiencyThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202443-24641995
Hagberg BAet al.Carbohydrate-deficient glycoprotein syndrome: peculiar group of new disordersPediatr Neurol94255-2621993