D-GLYCERIC ACIDURA

Question 1

What is  D-GLYCERIC ACIDURA?

Accepted Answer

rare
autosomal recessive
mutation in the GLYCTK gene
d-glycerate kinase deficiency (GK) is a benign disorder [Kalim A et al. 2017]
d-glycerate kinase deficiency (GK) does not cause nonketotic hyperglycinemia (NKH) [Swanson MA et al.2017]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

D-Glycerat-Kinase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 220120

Question 4

Which enzymes are involved?

Accepted Answer

Glycerate kinase

Disease	D-GLYCERIC ACIDURA
Synonym	D-GLYCERICACIDEMIA; D-GLYCERATE KINASE DEFICIENCY
OMIM	220120 OMIM = Online Mendelian Inheritance of Men
Orphanet	941
Protein (UniProt)	Glycerate kinase
ExPASy	2.7.1.31
Gene locus	3p21.2
ICD	E74.8
Summary	rare autosomal recessive mutation in the GLYCTK gene d-glycerate kinase deficiency (GK) is a benign disorder [Kalim A et al. 2017] d-glycerate kinase deficiency (GK) does not cause nonketotic hyperglycinemia (NKH) [Swanson MA et al.2017]
Laboratory findings	D-Glyceric acid inc (urine) D-Glyceric acid inc (serum) Glycine inc (urine) Glycine inc (plasma)
Symptoms	Amino acids, plasma behavior, autism or autistic-like blindness, visual loss, visual impairment encephalopathy failure to thrive hearing defect, deafness hypotonia joint hypermobilty, dislocations, laxity mental retardation metabolic acidosis microcephaly (<2 SD for age) motor retardation no clinical symptoms (probably) onset, infancy onset, neonatal Organic acids, urine psychomotor retardation seizures spastic diplegia/quadriplegia/tetraplegia tachypnea, hyperpnea, dyspnea, hyperventilation tremor or twitching