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Summary
UREIDOPROPIONASE DEFICIENCY
BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF
613161
OMIM = Online Medalian Inheritance of Men
65287
22q11.23
rare  (30 cases)
autosomal recessive
mutation in the UPB1 gene
symptoms
behavior, autism or autistic-like
dysmorphism
dystonia
hypotonia
mental retardation
no consistent clinical signs or symptoms
onset, infancy
onset, neonatal
optic atrophy
psychomotor retardation
scoliosis
seizures
laboratory finding
MRS, brain, abnormalities -
Ureidopropionic acid0.000.00 increasedurineno data
Ureidoisobutyric acid0.000.00 increasedurineno data
Dihydrothymine0.000.00 increasedurineno data
Dihydrouracil0.000.00 increasedplasmano data
Literature
Choi JHKim H, Yoo HWTwo cases of citrullinaemia presenting with strokeJ Inher Met Dis290182-1832006
Segura-Bruna Net al.Valproate-induced hyperammonemic encephalopathyActa Neurol Scand11411-72006
Waggoner DDBuist NR, Donnell GNLong term prognosis in galactosemia: results of a survey of 350 casesJ Inherit Metab Dis130802-8181990
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Lee WT,et al.Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiencyHum Brain Mapp3831532-15402017
Sovik OMitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of Isoleucine and ketone body metabolismJ Inherit Metab Dis16046-541993
Robberecht Eet al.Successful liver transplantation for argininosuccinate lyase deficiency (ASLD)J Inher Met Dis290184-1852006
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993
Ozand PTet al.3-Ketothiolase deficiency: e review and four new cases with neurologic symptomsBrain Dev Suppl16038-451994
Bonham JRet al.D(+)-glyceric aciduria: etiology and clinical consequencesPediatr Res28038-411990
Ten Brink HJvan den Heuvel CMM, Poll-The BT, Wanders RJA, Jacobs CPeroxysomal Disorders: Concentrations of metabolites in cerebrospinal fluid compared wth plasmaJ Inherit Metab Dis160587-5891993