ORPHA:408

Isolated glycerol kinase deficiency

Synonyms: Hyperglycerolemia

Type: Disease
Group: Disorder
Inheritance: X-linked recessive
Age of onset: All ages
Status: active

Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isolated glycerol kinase deficiency	Hyperglycerolemia
fr	Déficit isolé en glycérol kinase	Hyperglycérolémie
de	Glycerol-Kinase-Mangel, isolierter	Hyperglycerinämie · Hyperglycerolämie
es	Deficiencia aislada de glicerol quinasa	Hiperglicerolemia
it	Deficit isolato di glicerolo-chinasi	Iperglicerolemia
nl	Geïsoleerde glycerolkinasedeficiëntie	Hyperglycerolemie
pt	Deficiência de glicerol cinase isolada	Hiperglicerolemia
pl	Izolowany Niedobór kinazy glicerolowej	Hiperglicerolemia
cs	Izolovaný deficit glycerol kinázy	Hyperglycerolemie
uk	Ізольований дефіцит гліцеролкінази	Гіпергліцеролемія
zh	孤立型甘油激酶缺乏症	高甘油三酯血症
tr	İzole gliserol kinaz eksikliği	Hipergliserolemi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	307030	E		validated
ICD-10	E74.8	NTBT	attributed	validated
ICD-11	5C51.1	NTBT	index	validated
MONDO	0018459	E		validated
MeSH	C538138	E		validated
UMLS	C0574108	E		validated
GARD	2807	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:308993Glycerol kinase deficiency
rare inborn errors of metabolism; rare genetic diseases

Children (2):

Genes

0 direct · 2 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GK	ORPHA:284411Glycerol kinase deficiency, juvenile form	Disease-causing germline mutation(s) in	Assessed	HGNC:4289	ENSG00000198814	300474	Xp21.2	glycerol kinase	8651297[PMID]
GK	ORPHA:284414Glycerol kinase deficiency, adult form	Disease-causing germline mutation(s) in	Assessed	HGNC:4289	ENSG00000198814	300474	Xp21.2	glycerol kinase	8651297[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

17 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0002167	Abnormality of speech or vocalization
HP:0008182	Adrenocortical hypoplasia
HP:0003457	EMG abnormality
HP:0003236	Elevated circulating creatine kinase concentration
HP:0001263	Global developmental delay
HP:0001252	Hypotonia
HP:0001249	Intellectual disability
HP:0001942	Metabolic acidosis
HP:0003198	Myopathy
HP:0001315	Reduced tendon reflexes
HP:0004322	Short stature
Frequent (79-30%)
HP:0000028	Cryptorchidism
HP:0002353	EEG abnormality
HP:0003307	Hyperlordosis
HP:0000939	Osteoporosis
HP:0002650	Scoliosis
HP:0001250	Seizure

Run the differential on the 11 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/408
This record as JSON: /data/d/408.json