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Summary
2-AMINOADIPIC ACIDURIA (AMOCAD)
AMINOADIPIC ACIDURIA AMOXAD
204750
OMIM = Online Medalian Inheritance of Men
79154
10p14
rare
autosomal recessive
mutation in the DHTKD1 gene
see 2-Ketoadipic acidemia
symptoms
behavior, hyperactive, restless
bleeding tendencies, hemorrhages
edema
hypotonia
mental retardation
microcephaly (<2 SD for age)
no consistent clinical signs or symptoms
onset, neonatal
seizures
speech development, delayed, abnormal
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
2-Aminoadipic acid 48.00 -Ámol/lplasma
2-Aminoadipic acid 1300.000.0012.00mmol/mol creatinineurine
2-Hydroxyadipic acid0.000.00 increasedurineno data
2-Ketobutyric acid0.000.00 increasedurineno data
Literature
Jaeken Jvan den BergheAn infantile autistic syndrome characterised by the presence of succinylpurines in body fluidsLancet II001058-10611984
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Saheki TKobayashi KMitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)J Hum Genet477333-3412002
Huck JHet al.Clinical presentations of patients with polyol abnormalitiesNeuropediatrics353167-1732004
Baric Iet al.S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolismProc Natl Acad Sci U S A101124234-42392004
Blau NBarnes I, Dhondt JLInternational database of tetrahydrobiopterin deficienciesJ Inherit Metab Dis1908-141996
Shih VEet al.A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotypeAm J Hum Genet57134-391995
Carrillo-Carrasco N,Venditti CPCombined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomesJ Inherit Metab Dis351103-1142012
Jaeken Jet al.Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesisEur J Pediatr1480126-1311988