D-LACTIC ACIDURIA (DLACD)

Question 1

What is  D-LACTIC ACIDURIA (DLACD)?

Accepted Answer

very rare (2 patients)

autosomal recessive

mutation in the LDHD gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Laktatazidose - angeborener Stoffwechseldefekt?

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 245450

Disease	D-LACTIC ACIDURIA (DLACD)
Synonym	LACTIC ACIDURIA DUE TO D-LACTIC ACID, LDHD
OMIM	245450 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	16q23.1
ICD	E87.2
Summary	very rare (2 patients) autosomal recessive mutation in the LDHD gene
Laboratory findings	2-Hydroxyisocaproic acid inc (urine) 2-Hydroxyisovaleric acid inc (urine) D-Lactic acid inc (urine) L-Lactic acid (urine)
Symptoms	dysmorphism inguinal hernia lactic acidosis mental retardation metabolic acidosis microcephaly (<2 SD for age) motor retardation onset, infancy onset, neonatal