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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

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"Times New Roman"mso-hansi-theme-font:minor-latinmso-bidi-theme-font:minor-latin
mso-ansi-language:DEmso-fareast-language:DEmso-bidi-language:AR-SA>The
differentiation between Dravet syndrome and +¦-ureidopropionase deficiency is
clinically challenging since both conditions share overlapping clinical
features [
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Calibrimso-fareast-theme-font:minor-latinmso-hansi-theme-font:minor-latin
mso-bidi-font-family:"Times New Roman"mso-bidi-theme-font:minor-bidi
mso-ansi-language:DEmso-fareast-language:EN-USmso-bidi-language:AR-SA>mso-bidi-theme-font:minor-latincolor:bluemso-fareast-language:DE>Lam CW et al. 2015
]
symptoms
behavior, autism or autistic-like
dysmorphism
dystonia
hypotonia
mental retardation
no clinical signs or symptoms
onset, newborn
optic atrophy
psychomotor retardation
scoliosis
seizures
laboratory finding
MRS, brain, abnormalities -
beta-Ureidopropionate0.000.00 increasedurineno data
beta-Ureidoisobutyrate0.000.00 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
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
Waggoner DDBuist NR, Donnell GNLong term prognosis in galactosemia: results of a survey of 350 casesJ Inherit Metab Dis130802-8181990
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