Preferred Label : D-lactic aciduria with gout;
Symbol : DLACD;
CISMeF acronym : DLACD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : UAQTL7; GOUT5; Gout, susceptibility to, 5; Uric acid concentration, serum, quantitative trait locus 7;
Description : Duran et al. (1977) described a single child of Sicilian descent who had mental retardation,
microcephaly, antimongoloid slanting of the eyes, aniridia, and bilateral inguinal
hernia. Levels of lactic acid were normal in the plasma, but were high in the urine.
The lactic acid was shown to be D-lactic acid. The lactic acid normally produced is
L-lactic acid and only when it becomes elevated in the plasma does it 'overflow' into
the urine. The authors posited that their patient had an inborn error of metabolism
that leads to production of D-lactate and that lactate with this configuration is
not resorbed by the renal tubule. *FIELD* RF 1. Duran, M.; van Biervliet, J. P. G.
M.; Kamerling, J. P.; Wadman, S. K.: D-lactic aciduria, an inborn error of metabolism?
Clin. Chim. Acta 74: 297-300, 1977. *FIELD* CS Neuro: Mental retardation;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the lactate dehydrogenase-D gene (LDHD, 607490.0001);
Laboratory abnormalities : Elevated urinary D-lactate levels (D-lactic aciduria); Elevated plasma uric acid levels; Reduced renal clearance of uric acid; Normal plasma L-lactate levels; Elevated plasma D-lactate levels;
Prefixed ID : #245450;
Origin ID : 245450;
UMLS CUI : C5193006;
Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
