DIBASIC AMINO ACIDURIA I

Question 1

What is  DIBASIC AMINO ACIDURIA I?

Accepted Answer

rare
autosomal recessive
13 members of a French-Canadian kindred

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperdibasische Aminoazidurie Typ 1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 222690

Question 4

Which enzymes are involved?

Accepted Answer

transport defect (?)

Disease	DIBASIC AMINO ACIDURIA I
Synonym	HYPERDIBASIC AMINOACIDURIA I
OMIM	222690 OMIM = Online Mendelian Inheritance of Men
Orphanet	1032
Gene locus	unknown
ICD	E72.0
Summary	rare autosomal recessive 13 members of a French-Canadian kindred
Laboratory findings	L-Lysine inc (urine) Arginine inc (urine) Cystine inc (urine) Ornithine inc (urine)
Symptoms	no clinical symptoms (probably) Amino acids, urine athetosis intestinal malabsorption mental retardation onset, childhood onset, infancy