Fructose-1,6-bisphosphatase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 348
OMIM Id: 229700
ICD-10: E74.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of fructose metabolism
 -Rare genetic disease
Gluconeogenesis disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001250) Seizures 1245 / 7739
2
 (HPO:0001254) Lethargy 104 / 7739
3
 (HPO:0001259) Coma 65 / 7739
4
 (HPO:0000737) Irritability 93 / 7739
5
 (HPO:0002240) Hepatomegaly 467 / 7739
6
 (HPO:0001649) Tachycardia 53 / 7739
7
 (HPO:0001942) Metabolic acidosis 81 / 7739
8
 (HPO:0001945) Fever 218 / 7739
9
 (HPO:0001946) Ketosis 17 / 7739
10
 (HPO:0001943) Hypoglycemia 131 / 7739
11
 (HPO:0002883) Hyperventilation 10 / 7739
12
 (HPO:0002094) Dyspnea 132 / 7739
13
 (HPO:0002104) Apnea 106 / 7739
14
 (HPO:0001252) Muscular hypotonia 990 / 7739
15
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
16
 (HPO:0001324) Muscle weakness 859 / 7739
17
 (HPO:0010547) Muscle flaccidity 466 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Decreased FBP1 enzyme activity 1 / 7739
20
 (OMIM) Increased urinary glycerol 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the ...
Diagnosis OMIM Buhrdel et al. (1990) and Besley et al. (1994) described female patients with FBP1 deficiency and normal enzyme activity in leukocytes. Kikawa et al. (1997) noted that enzyme assay using leukocytes is not reliable for detection of FBPase ...
Clinical Description OMIM Baker and Winegrad (1970) described a girl with hypoglycemia and metabolic acidosis on fasting. Biochemical studies showed impaired gluconeogenesis due to deficiency of hepatic fructose-1,6-diphosphatase. A sib had died of a clinically similar ailment.

The patient ...
Molecular genetics OMIM In 10 of 13 Japanese patients with FBP1 deficiency, Kikawa et al. (1997) identified homozygous or compound heterozygous mutations in the FBP1 gene. Total RNA was isolated from cultured monocytes. A 1-bp insertion (960insG; 611570.0001) was the most ...