HARTNUP DISEASE (HND)

Question 1

What is  HARTNUP DISEASE (HND)?

Accepted Answer

rare
autosomal recessive
mutations in the gene encoding the neutral amino acid transporter SLC6A19

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hartnup-Syndrom; Hartnup-Krankheit;

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 234500

Question 4

Which enzymes are involved?

Accepted Answer

Sodium-dependent neutral amino acid transporter B(0)AT1

Disease	HARTNUP DISEASE (HND)
Synonym	HARTNUP DISORDER; BEHAVIORAL DISTURBANCES, REVERSIBLE
OMIM	234500 OMIM = Online Mendelian Inheritance of Men
Orphanet	2116
Protein (UniProt)	Sodium-dependent neutral amino acid transporter B(0)AT1
Gene locus	5q15.33
ICD	E72.0
Summary	rare autosomal recessive mutations in the gene encoding the neutral amino acid transporter SLC6A19
Laboratory findings	Alanine inc (urine) Asparagine inc (urine) Glutamic acid normal/inc (urine) Glutamine inc (urine) Indole-3-acetic acid inc (urine) L-Histidine inc (urine) L-Isoleucine inc (urine) L-Serine inc (urine) L-Threonine inc (urine) L-Tryptophan dec (plasma) L-Tryptophan inc (urine) L-Tyrosine inc (urine) Leucine inc (urine) Phenylalanine inc (urine) Valine inc (urine)
Symptoms	ataxia photophobia or photosensitive defect in light-exposed area psychosis aminoaciduria behavior, abnormal or bizarre, confusion CT, brain, abnormalities [-] diarrhea EEG abnormalities [-] glossitis mental retardation no clinical symptoms (probably) onset, childhood onset, infancy pellagra short stature