HISTIDINEMIA

Question 1

What is  HISTIDINEMIA?

Accepted Answer

rare
autosomal dominant
histidinaemia should be considered a benign condition, some authors were unable to show any correlation between the level of plasma histidine and particular clinical problems (Lam et al. 1996)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Histidinämie; Histidinurie; Histidin-Ammoniak-Lyase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 235800

Question 4

Which enzymes are involved?

Accepted Answer

Histidine ammonia-lyase

Disease	HISTIDINEMIA
Synonym	HAL
OMIM	235800 OMIM = Online Mendelian Inheritance of Men
Orphanet	2157
Protein (UniProt)	Histidine ammonia-lyase
ExPASy	4.3.1.3
Gene locus	12q23.1
ICD	E70.8
Summary	rare autosomal dominant histidinaemia should be considered a benign condition, some authors were unable to show any correlation between the level of plasma histidine and particular clinical problems (Lam et al. 1996)
Laboratory findings	Ferric chloride reaction (urine) Histamine inc (plasma) Histamine inc (urine) Imidazoleacetic acid inc (urine) Imidazolelactic acid inc (urine) Imidazolepyruvic acid inc (urine) L-Histidine inc (serum) L-Histidine inc (cerebrospinal fluid) L-Histidine inc (urine) N-Acetylhistidine inc (urine) N-Methylhistamine inc (urine) Urocanic Acid dec (urine) Urocanic Acid dec (serum)
Symptoms	Amino acids, plasma mental retardation no clinical symptoms (probably) onset, infancy onset, neonatal Organic acids, urine speech development, delayed, abnormal