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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 recessive
mutation in the OCRL gene
cataract at birth, tubular manifestation 3-6 months
symptoms
Amino acids, urine
aminoaciduria
areflexia
behavior, abnormal or bizarre, confusion
behavior. aggressive
bone fractures
buphthalmus
cataract
cerebral atrophy
constipation
cryptorchism
developmental delay
failure to thrive
Fanconi syndrome
glaucoma
hypotonia
impaired visual acuity
joint swelling
mental retardation
metabolic acidosis
microphthalmus
onset, childhood
onset, fetus
onset, infancy
onset, neonatal
proteinuria
renal failure, acute/chronic
rickets
seizures
short stature
laboratory finding
Phosphate0.000.00 increasedurineno data
Phosphate 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) 120.00330.00U/lserum
Creatine kinase 40.00400.00U/lserum
EEG abnormalities -
MRI, brain, abnormalities -
Protein increasedurine
alpha-Fetoprotein amniotic fluid
Literature
Roetto A,et al.Juvenile hemochromatosis locus maps to chromosome 1qAm J Hum Genet6451388-13931999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Lopriore E,et al.Neonatal hemochromatosis: management, outcome, and preventionPrenat Diagn33131221-12252013
Mampilly GT,et al.Challenges in diagnosing a metabolic disorder: error of pyruvate metabolism or drug induced?J Child Neurol296833-8362014
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
Feldman AG,Whitington PFNeonatal hemochromatosisJ Clin Exp Hepatol34313-3202013
Bardou-Jacquet E,Brissot PDiagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE)Hematol Oncol Clin North Am284625-6352014
Brassier A,et al.Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndromeMol Genet Metab109128-322013
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
Bardou-Jacquet E,Brissot PDiagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE)Hematol Oncol Clin North Am284625-6352014
Haviv R,et al.Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiencyEur J Pediatr1732243-2452014
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