What is DIHYDROPYRIMIDINASE DEFICIENCY (DHP)?

very rare (~31 patients) autosomal recessive mutation in the DPYS gene

Gibt es eine deutsche Bezeichnung?

Dihydropyrimidinurie; Dihydropyrimidinase-Mangel

Disease	DIHYDROPYRIMIDINASE DEFICIENCY (DHP)
Synonym	DPH DEFICIENCY; DIHYDROPYRIMIDINURIA
OMIM	222748 OMIM = Online Mendelian Inheritance of Men
Orphanet	38874
Protein (UniProt)	Dihydropyrimidinase
ExPASy	3.5.2.2
Gene locus	8q22.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Dihydropyrimidinase
ICD	E79.8
Summary	very rare (~31 patients) autosomal recessive mutation in the DPYS gene
Laboratory findings	Dihydrothymine inc (plasma) Dihydrothymine inc (cerebrospinal fluid) Dihydrouracil inc (plasma) Dihydrothymine inc (urine) Thymine normal/inc (urine) Uracil inc (urine) Dihydrouracil inc (cerebrospinal fluid) Dihydrouracil inc (urine) Tyramine inc (urine) Uric acid normal/inc (urine)
Symptoms	intellectual disability/intellectual developmental disorder clubfoot developmental delay dysmorphism epilepsy plagiocephaly seizures diarrhea feeding difficulties, poor feeding growth retardation, poor growth hepatomegaly (large liver) hyporeflexia hypotonia infantile spasms mental retardation metabolic acidosis microcephaly (<2 SD for age) motor retardation MRI, brain, white matter abnormalities [-] no clinical symptoms (probably) onset, childhood onset, infancy psychomotor retardation skeletal changes, skeletal abnormalities speech development, delayed, abnormal vomiting