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Summary
ARGININEMIA
HYPERARGININEMIA, ARGINASE DEFICIENCY
207800
OMIM = Online Medalian Inheritance of Men
90
6q23.2
  • amino acid mixture
  • low-protein diet
  • sodium benzoate
rare (1:1000000)
autosomal recessive
mutation arginase-1 gene
symptoms
Amino acids, plasma
ataxia
behavior, hyperactive, restless
buphthalmus
cerebral atrophy
chorea or athetosis
developmental delay
failure to thrive
growth retardation
hyperammonemia
hypotonia
irritability
jaundice
mental retardation
microcephaly (<2 SD for age)
onset, adulthood
onset, childhood
onset, neonatal
Organic acids, urine
seizures
spastic diplegia/quadriplegia
strokelike episodes
vomiting
laboratory finding
Ammonia90.00200.0025.0080.00-Ámol/lblood
Arginine1000.001500.006.00140.00-Ámol/lplasma
Urea1.008.005.0015.00mmol/lserum
Uracil20.0050.002.0022.00mmol/mol creatinineurine
Argininosuccinate0.002.000.001.00+Ôé¼mol/lurinenewborn
Orotic acid500.001000.000.0011.00mmol/mol creatinineurine
Arginase 100.00decreased activityliver
Arginase 100.00decreased activityerythrocytes
MRI, brain, abnormalities -
Guanidinoacetate increasedplasma
Arginine increasedcerebrospinal fluid
Homoarginine increasedplasma
Homoarginine increasedcerebrospinal fluid
Creatine increasedplasma
Literature
Vasudevan S et al.Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduriaBiochem Mol Biol Int350685-6901995
Levy HLHartnup disorderThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.303629-36421995
Blau Net al.A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening programJ Pediatr1263401-4051995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hachisu Met al.Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhoodEur J Pediatr1642109-1102005
Hirono Aet al.A novel human catalse mutation (358T-->del) causing japanese-type acatalasemiaBlood Cells Mol Dis210232-2341995
Ponzone Aet al.Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase I deficiencyEur J Pediatr15386161994
Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Hommes FAet al.Carbamyl phosphate synthetase deficiency in an infant with severe cerebral damageArch Dis Child440688-6931969
Scriver CRet al.The hyperphenylalaninemiasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101015-10751995
Matthieu JMBoulat OKetotic hypoglycemia in childrenRev Med Suisse Romande12212640-6442002
Thomas GHBeaudet ALDisorders of glycoprotein degradation and structure: alpha-mannosidosis, beta-mannosidosis, fucosidosis, sialidosis, aspartylglucosminuria and carbohydrate- deficient glycoprotein syndromeThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202529-25611995
Ozand PTet al.3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi ArabiaJ Inherit Metab Dis1401741991
North KNet al.Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneysJ Pediatr1273414-4201995
Couper RTet al.Longitudinal evaluation of serum trypsinogen measurement in pancreatic-insufficient and pancreatic-sufficient patients with cystic fibrosisJ Pediatr1273408-4131995
Scheuerle AGreenberg F, McCabe ERBDysmorphic features in patients with complex glycerol kinase deficiencyJ Pediatr1265764-7671995
Freeman JMet al.Congenital hyperammonemia: association with hyperglycinemia and decreased levels of carbamyl phosphate synthetaseArch Neurol230430-4371970
Daly LPet al.Presenting features of idiopathic ketotic hypoglycemiaJ Emerg Med25139-432003
Matsubara Tet al.Ketotic hypoglycemia in patients with allergic diseasesPediatr Int456653-6552003
Malheiro AR,da Silva TF, Brites PPlasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjoegren-Larsson syndromeJ Inherit Metab Dis381111-1212015
Shoffner JMWallace DCOxidative phosphorylation diseasesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.1461535-16091995
Krivit WAllogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseasesSpringer Semin Immunopathol260119-1322004
Thomas GHBeaudet ALDisorders of glycoprotein degradation and structure: alpha-mannosidosis, beta-mannosidosis, fucosidosis, sialidosis, aspartylglucosminuria and carbohydrate- deficient glycoprotein syndromeThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202529-25611995