Hydroxykynureninuria, also known as xanthurenic aciduria is autosomal recessive disorder of tryptophan metabolism. It is characterized by excessive output of xanthutrenic acid, 3-hydroxykynurenine, and kynurenine in urine. This disease is caused by homozygous mutation in the KYNU gene, which encodes kynureninase. Kynureninase is an enzyme in the catabolic pathway of tryptophan metabolism. Some of these deficiencies lead to pellagra or mild pellagra-like symptoms, while it was reported in some patients no symptom of niacin deficiency was observed. The different clinical outcomes could be explained by differences in the intake of niacin. The sufficient intake of niacin could prevent depletion in some patients despite their impaired niacin synthesis.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H01583 Hydroxykynureninuria
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06036 Lysine degradation
H01583 Hydroxykynureninuria
DISEASE: Vertebral, cardiac, renal, and limb defects syndrome
Entry
H02087 Disease
Name
Vertebral, cardiac, renal, and limb defects syndrome; Congenital NAD deficiency disorder
Description
Vertebral, cardiac, renal, and limb defects syndrome (VCRL) is an autosomal recessive congenital malformation syndrome. It has been reported that disruption of nicotinamide adenine dinucleotide (NAD) synthesis causes a deficiency of NAD and congenital malformations in humans and mice.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02087 Vertebral, cardiac, renal, and limb defects syndrome
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06036 Lysine degradation
H02087 Vertebral, cardiac, renal, and limb defects syndrome
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
Title
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
