GLYCEROL KINASE DEFICIENCY

Question 1

What is  GLYCEROL KINASE DEFICIENCY?

Accepted Answer

rare (>50 cases)
X-linked recessive
mutation in the GK gene
clinically distinct 3 forms:

1) complex glycerol kinase deficiency, Xp21 contiguous gene syndrome

2) infantile form - development delay

2) juvenile form - symptomatic
3) benign or (asymptomatic) adult form
‘pseudohypertriglyceridaemia’ is frequently misdiagnosed as hypertriglyceridaemia in Isolated glycerol kinase deficiency (GKD),

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Glycerol-Kinase-Mangel, isolierter; Hyperglyzerinämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 307030

Question 4

Which enzymes are involved?

Accepted Answer

glycerol kinase

Disease	GLYCEROL KINASE DEFICIENCY
Synonym	GKD; HYPERGLYCEROLEMIA, GLYCEROLURIA; GLYCEROL KINASE DEFICIENCY
OMIM	307030 OMIM = Online Mendelian Inheritance of Men
Orphanet	408
Protein (UniProt)	glycerol kinase
ExPASy	2.7.1.30
Gene locus	Xp21.2
ICD	E74.8
Summary	rare (>50 cases) X-linked recessive mutation in the GK gene clinically distinct 3 forms: 1) complex glycerol kinase deficiency, Xp21 contiguous gene syndrome 2) infantile form - development delay 2) juvenile form - symptomatic 3) benign or (asymptomatic) adult form ‘pseudohypertriglyceridaemia’ is frequently misdiagnosed as hypertriglyceridaemia in Isolated glycerol kinase deficiency (GKD),
Laboratory findings	Glycerol inc (serum) Glycerol inc (urine) Creatine kinase normal/inc (serum) D-Glucose dec (serum) Ketone bodies (urine) normal/inc (urine) pH normal/dec (blood) Pseudohypertriglyceridemia (serum) Sodium normal/inc (serum) Triglycerides inc (serum)
Symptoms	hypoglycemia defect of adrenal gland or function adrenal insufficiency dysmorphism growth retardation, poor growth ketosis, ketoacidosis metabolic acidosis no clinical symptoms (probably) obstructive airway disease short stature strabismus cholestasis coma cryptorchism EEG abnormalities [-] failure to thrive fever hyperpigmentation hypothermia intellectual disability/intellectual developmental disorder lethargy, drowsiness, apathy liver involvement or dysfunction muscle weakness myopathy onset, adolescent onset, childhood onset, infancy onset, neonatal Organic acids, urine osteoporosis seizures vomiting