Description
Ketotic hypoglycaemia eligibility statement:

Specific metabolic abnormalities eligibility statements.

Specific Metabolic Abnormalities inclusion criteria (29455)
- Evidence of inborn error of metabolism as demonstrated by findings in at least 2 of the following areas:
  - Clinical presentation
  - Biochemical
  - Haematological
  - Radiological
- Biochemical testing and genetic testing completed for relevant known inborn errors of metabolism

Specific Metabolic Abnormalities exclusion criteria (29455)

Prior genetic testing guidance (29455)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Specific Metabolic Abnormalities prior genetic testing genes (29455)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Genetic testing completed for relevant known inborn errors of metabolism

Closing statement (29455)
These requirements will be kept under continual review during the main programme and may be subject to change.

                

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Alexander Broomfield (Central Manchester Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: Other clinical service

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

44 Entities

44 reviewed, 26 green

List Entity Reviews Mode of inheritance Details
44 Entitiess
Green Green List (high evidence)
ACAT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fasting intolerance with acidosis, ? residual neurological problems
Tags
Green Green List (high evidence)
AGL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
  • Glycogen storage disease IIIa, 232400
  • Glycogen storage disease IIIb, 232400
  • Glycogen Storage Disease Type III
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Tags
Green Green List (high evidence)
ALDOA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease XII, 611881
  • Glycogen Storage Disease
Tags
Green Green List (high evidence)
ALDOB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation
  • hereditary fructose intolerance
Tags
Green Green List (high evidence)
BTD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • lactic acidosis with seizures and eczema,immune deficiency
Tags
Green Green List (high evidence)
FBP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
Tags
Green Green List (high evidence)
G6PC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • fasting intolerance with enlarged liver, renal tubular disease
  • Glycogen storage disease Ia, 232200
  • Glycogen Storage Disease Type I
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
  • Glycogen Storage Disease Ia
Tags
Green Green List (high evidence)
GBE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
  • Glycogen storage disease IV, 232500
  • Polyglucosan body disease, adult form, 263570
  • Glycogen Storage Disease Type IV
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Tags
Green Green List (high evidence)
GYS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • fasting intolerance without enlarged liver
  • Glycogen storage disease, type 0, 240600
  • Glycogen Storage Disease Type 0, Liver
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
Tags
Green Green List (high evidence)
HLCS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • lactic acidosis with seizures and eczema, immune deficiency
  • Holocarboxylase synthetase deficiency
Tags
Green Green List (high evidence)
IVD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
Tags
Green Green List (high evidence)
LDHA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
  • Glycogen storage disease XI, 612933
Tags
Green Green List (high evidence)
MCEE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
  • Methylmalonyl-CoA epimerase deficiency
Tags
Green Green List (high evidence)
MUT
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
Tags
  • new-gene-name
Green Green List (high evidence)
OXCT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • severe ketosis on fasting often ketotic in fed state no hepatomegaly
  • Succinyl CoA:3-oxoacid CoA transferase deficiency
Tags
Green Green List (high evidence)
PC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • lactic acidosis, hypotonia, encephalopathy
Tags
Green Green List (high evidence)
PCCA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections
  • Propionicacidemia
  • Propionic acidemia
Tags
Green Green List (high evidence)
PCCB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections)
  • Propionicacidemia
  • Propionic acidemia
Tags
Green Green List (high evidence)
PGM1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease XIV, 612934
  • Congenital disorder of glycosylation, type It, 614921
  • Glycogen Storage Disease Type XIV
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Tags
Green Green List (high evidence)
PHKA2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • hepatomegaly and mild hypoglycaemia
  • Glycogen storage disease, type IXa1, 306000
  • Glycogen storage disease, type IXa2, 306000
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
Tags
Green Green List (high evidence)
PHKB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • UKGTN
Phenotypes
  • hepatomegaly and variable myopathy
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Tags
Green Green List (high evidence)
PHKG2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • hepatomegaly and variable myopathy
  • Glycogen storage disease IXc, 613027
  • Cirrhosis due to liver phosphorylase kinase deficiency
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
Tags
Green Green List (high evidence)
PYGL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • hepatomegaly and mild hypoglycaemia
  • Glycogen storage disease VI, 232700
  • Glycogen Storage Disease Type VI
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
Tags
Green Green List (high evidence)
SLC16A1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • mainly ketosis with borderline reduction in glucose
  • Hyperinsulinemic hypoglycemia, familial, 7
Tags
Green Green List (high evidence)
SLC2A2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • UKGTN
Phenotypes
  • renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.
  • Glycogen Storage Disorders- Liver
  • Fanconi-Bickel Syndrome
Tags
Green Green List (high evidence)
SLC37A4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia
  • Glycogen storage disease Ib, 232220
  • Glycogen storage disease Ic, 232240
  • Glycogen Storage Disease Type I
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
  • Glycogen Storage Disease Ib and Ic
Tags
Red Red List (low evidence)
ABCC8
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 1, 256450
  • Hypoglycemia of infancy, leucine-sensitive, 240800
  • Diabetes mellitus, transient neonatal 2, 610374
  • Diabetes mellitus, noninsulin-dependent, 125853
  • Diabetes mellitus, noninsulin-dependent, 125854
Tags
Red Red List (low evidence)
BAAT
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • choleostatic liver disease
Tags
Red Red List (low evidence)
ENO3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease XIII, 612932
  • Glycogen Storage Disease Type XIII
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
EPM2A
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
FBP2
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
GAA
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease II, 232300
  • Glycogen Storage Disease, Type II
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
  • Glycogen Storage Disease II
Tags
Red Red List (low evidence)
GYG1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease XV, 613507
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
GYG2
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
GYS1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease 0, muscle, 611556
  • Glycogen Storage Disease Type 0, Muscle
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
LAMP2
2 reviews
1 red
Unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
NHLRC1
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
PFKL
2 reviews
Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
  • Hemolytic anemia due to phosphofructokinase deficiency
Tags
Red Red List (low evidence)
PFKM
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease VII, 232800
  • Glycogen Storage Disease Type VII
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
PGAM2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease X, 261670
  • Glycogen Storage Disease Type X
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
PGK1
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
Tags
Red Red List (low evidence)
PRKAG2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wolff-Parkinson-White syndrome, 194200
  • Cardiomyopathy, familial hypertrophic 6, 600858
  • Glycogen storage disease of heart, lethal congenital, 261740
  • Glycogen Storage Disease of Heart, Lethal Congenital
  • Glycogen Storage Disorders- Muscle
Tags
Red Red List (low evidence)
PYGM
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Glycogen Storage Disease Type V
  • Glycogen Storage Disease V (McArdle Disease)
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
  • Glycogen Storage Disease V
Tags
Red Red List (low evidence)
SLC27A5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • choleostatic jaundice and hepatomegaly
Tags

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