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Summary
OCULOCEREBRORENAL SYNDROME OF LOWE
LOWE OCULOCEREBRORENAL SYNDROME
309000
OMIM = Online Medalian Inheritance of Men
534
Xq26.1
  • no specific treatment
  • supportive/symptomatic therapy
rare X-linked
cataract at birth, tubular manifestation 3-6 months
symptoms
Amino acids, urine
areflexia
behavior, abnormal or bizarre, confusion
buphthalmus
cataract
cerebral atrophy
cryptorchism
Fanconi syndrome
glaucoma
glucosuria
hypotonia
impaired visual acuity
joint swelling
mental retardation
microphthalmus
onset, infant
onset, newborn
renal failure, acute/chronic
seizures
laboratory finding
Glucose0.000.00 increasedurineno data
Phosphorus, inorganic0.000.00 increasedurineno data
Phosphorus, inorganic 1.301.90decreasedserum
Transaminases 10.0030.00increasedserum
Cholesterol 3.105.20increasedserum
Protein, total, serum8.009.006.208.00g/dlserum
Serum acid phosphatase 11.00increasedserum
Lactate dehydrogenase (LDH) 120.00330.00increasedserum
Creatine kinase 40.00400.00increasedserum
EEG abnormalities -
MRI, brain, abnormalities -
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sewell ACet al.A case of familial benign methylmalonic aciduria?J Inherit Metab Dis195696-6971996
Dawson DBWaber L, Hale DE, Bennett MJTransient organic aciduria andpersistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiencyJ Pediatr126169-711995
Jain ABuist NRM, Kennaway NG, Powell BR, Auld PAM, Martensson JEffect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiencyJ Pediatr1242229-2321994
Iafolla, AKThompson RJ, Roe CRMedium chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected childrenJ Pediatr1240409-4151994
Blau NBlaskovics MEHyperphenylalaninemiain Blau N, Duran M, Blaskovics E (eds): in Physicians guide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0065-781996
Sewell ACet al.A case of familial benign methylmalonic aciduria?J Inherit Metab Dis195696-6971996