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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
speech development, delayed, abnormal
laboratory finding
MRS, brain, abnormalities -
Ureidopropionic acid0.000.00 mmol/mol creatinineurine
Ureidoisobutyric acid0.000.00 mmol/mol creatinineurineno data
Dihydrothymine800.004000.00 mmol/mol creatinineurine
Dihydrouracil0.000.00 +€mol/lplasma
Dihydrothymine +€mol/lplasma
Dihydrouracil200.001000.00 mmol/mol Creaurine
N -Carbamoyl-+¦-alanine mmol/mol creatinineurine
N -Carbamoyl-+¦-alanine +€mol/lplasma
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