What is UREIDOPROPIONASE DEFICIENCY?

rare (30 cases) autosomal recessive mutation in the UPB1 gene Normal 0 21 false false false DE X-NONE X-NONE DefSemiHidden=false DefQFormat=false DefPriority=99 LatentStyleCount=374> UnhideWhenUsed=true QFormat=true Name=heading 2/> UnhideWhenUsed=true QFormat=true Name=heading 3/> UnhideWhenUsed=true QFormat=true Name=heading 4/> UnhideWhenUsed=true QFormat=true Name=heading 5/> UnhideWhenUsed=true QFormat=true Name=heading 6/> UnhideWhenUsed=true QFormat=true Name=heading 7/> UnhideWhenUsed=true QFormat=true Name=heading 8/> UnhideWhenUsed=true QFormat=true Name=heading 9/> Name=index 1/> Name=index 2/> Name=index 3/> Name=index 4/> Name=index 5/> Name=index 6/> Name=index 7/> Name=index 8/> Name=index 9/> UnhideWhenUsed=true Name=toc 1/> UnhideWhenUsed=true Name=toc 2/> UnhideWhenUsed=true Name=toc 3/> UnhideWhenUsed=true Name=toc 4/> UnhideWhenUsed=true Name=toc 5/> UnhideWhenUsed=true Name=toc 6/> UnhideWhenUsed=true Name=toc 7/> UnhideWhenUsed=true Name=toc 8/> 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Table 7 Colorful Accent 4/> Name=List Table 1 Light Accent 5/> Name=List Table 6 Colorful Accent 5/> Name=List Table 7 Colorful Accent 5/> Name=List Table 1 Light Accent 6/> Name=List Table 6 Colorful Accent 6/> Name=List Table 7 Colorful Accent 6/> Name=Mention/> Name=Smart Hyperlink/> Name=Hashtag/> /* Style Definitions */ table.MsoNormalTable {mso-style-name:Normale Tabelle; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-parent:; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin-top:0cm; mso-para-margin-right:0cm; mso-para-margin-bottom:8.0pt; mso-para-margin-left:0cm; line-height:107%; mso-pagination:widow-orphan; font-size:11.0pt; font-family:Calibri,sans-serif; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Times New Roman; mso-bidi-theme-font:minor-bidi; mso-fareast-language:EN-US;} Normal 0 21 false false false 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Name=header/> Name=footer/> Name=index heading/> UnhideWhenUsed=true QFormat=true Name=caption/> Name=table of figures/> Name=envelope address/> Name=envelope return/> Name=footnote reference/> Name=annotation reference/> Name=line number/> Name=page number/> Name=endnote reference/> Name=endnote text/> Name=table of authorities/> Name=macro/> Name=toa heading/> Name=List/> Name=List Bullet/> Name=List Number/> Name=List 2/> Name=List 3/> Name=List 4/> Name=List 5/> Name=List Bullet 2/> Name=List Bullet 3/> Name=List Bullet 4/> Name=List Bullet 5/> Name=List Number 2/> Name=List Number 3/> Name=List Number 4/> Name=List Number 5/> Name=Closing/> Name=Signature/> UnhideWhenUsed=true Name=Default Paragraph Font/> Name=Body Text/> Name=Body Text Indent/> Name=List Continue/> Name=List Continue 2/> Name=List Continue 3/> Name=List Continue 4/> Name=List Continue 5/> Name=Message Header/> Name=Salutation/> Name=Date/> Name=Body Text First Indent/> Name=Body Text First Indent 2/> Name=Note 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Name=Table Grid 2/> Name=Table Grid 3/> Name=Table Grid 4/> Name=Table Grid 5/> Name=Table Grid 6/> Name=Table Grid 7/> Name=Table Grid 8/> Name=Table List 1/> Name=Table List 2/> Name=Table List 3/> Name=Table List 4/> Name=Table List 5/> Name=Table List 6/> Name=Table List 7/> Name=Table List 8/> Name=Table 3D effects 1/> Name=Table 3D effects 2/> Name=Table 3D effects 3/> Name=Table Contemporary/> Name=Table Elegant/> Name=Table Professional/> Name=Table Subtle 1/> Name=Table Subtle 2/> Name=Table Web 1/> Name=Table Web 2/> Name=Table Web 3/> Name=Balloon Text/> Name=Table Theme/> Name=List Paragraph/> Name=Intense Quote/> Name=Subtle Emphasis/> Name=Intense Emphasis/> Name=Subtle Reference/> Name=Intense Reference/> UnhideWhenUsed=true Name=Bibliography/> UnhideWhenUsed=true QFormat=true Name=TOC Heading/> Name=Grid Table 1 Light Accent 1/> Name=Grid Table 6 Colorful Accent 1/> Name=Grid Table 7 Colorful Accent 1/> Name=Grid Table 1 Light Accent 2/> Name=Grid Table 6 Colorful Accent 2/> Name=Grid Table 7 Colorful Accent 2/> Name=Grid Table 1 Light Accent 3/> Name=Grid Table 6 Colorful Accent 3/> Name=Grid Table 7 Colorful Accent 3/> Name=Grid Table 1 Light Accent 4/> Name=Grid Table 6 Colorful Accent 4/> Name=Grid Table 7 Colorful Accent 4/> Name=Grid Table 1 Light Accent 5/> Name=Grid Table 6 Colorful Accent 5/> Name=Grid Table 7 Colorful Accent 5/> Name=Grid Table 1 Light Accent 6/> Name=Grid Table 6 Colorful Accent 6/> Name=Grid Table 7 Colorful Accent 6/> Name=List Table 1 Light Accent 1/> Name=List Table 6 Colorful Accent 1/> Name=List Table 7 Colorful Accent 1/> Name=List Table 1 Light Accent 2/> Name=List Table 6 Colorful Accent 2/> Name=List Table 7 Colorful Accent 2/> Name=List Table 1 Light Accent 3/> Name=List Table 6 Colorful Accent 3/> Name=List Table 7 Colorful Accent 3/> Name=List Table 1 Light Accent 4/> Name=List Table 6 Colorful Accent 4/> Name=List Table 7 Colorful Accent 4/> Name=List Table 1 Light Accent 5/> Name=List Table 6 Colorful Accent 5/> Name=List Table 7 Colorful Accent 5/> Name=List Table 1 Light Accent 6/> Name=List Table 6 Colorful Accent 6/> Name=List Table 7 Colorful Accent 6/> Name=Mention/> Name=Smart Hyperlink/> Name=Hashtag/> /* Style Definitions */ table.MsoNormalTable {mso-style-name:Normale Tabelle; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-parent:; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin-top:0cm; mso-para-margin-right:0cm; mso-para-margin-bottom:8.0pt; mso-para-margin-left:0cm; line-height:107%; mso-pagination:widow-orphan; font-size:11.0pt; font-family:Calibri,sans-serif; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Times New Roman; mso-bidi-theme-font:minor-bidi; mso-fareast-language:EN-US;}

Gibt es eine deutsche Bezeichnung?

Beta-Ureidopropionase-Mangel; Beta-Alanin-Synthase-Mangel

UREIDOPROPIONASE DEFICIENCY

Disease	UREIDOPROPIONASE DEFICIENCY
Synonym	BETA-AMINOISOBUTYRIC ACID, URINARY EXCRETION OF
OMIM	613161 OMIM = Online Mendelian Inheritance of Men
Orphanet	65287
Protein (UniProt)	beta-ureidopropionase
ExPASy	3.5.1.6
Gene locus	22q11.23
ICD	E79.8
Summary	rare (30 cases) autosomal recessive mutation in the UPB1 gene
Laboratory findings	Ureidoisobutyric acid inc (urine) Ureidopropionic acid inc (urine) Dihydrothymine inc (plasma) Dihydrothymine inc (urine) Dihydrouracil inc (plasma) Dihydrouracil inc (urine) N -Carbamoyl-β-alanine inc (urine) N -Carbamoyl-β-alanine inc (plasma) N-carbamyl-β-aminoisobutyric acid inc (urine) Ureidoisobutyric acid inc (plasma)
Symptoms	behavior, autism or autistic-like developmental delay dysmorphism dystonia hypotonia mental retardation MRI, brain, abnormalities [-] psychomotor retardation seizures speech development, delayed, abnormal MRS, brain, abnormalities no clinical symptoms (probably) onset, infancy onset, neonatal optic atrophy polydactyly scoliosis status epilepticus