Genomics Precision Diagnostic > Metabolic Precision Panel > Urea Cycle Disorder Precision Panel

Urea Cycle Disorder Precision Panel – 50 genes

The Urea Cycle is the metabolic pathway that transforms nitrogen from peripheral (muscle) and enteral sources (protein ingestion) into urea that is water soluble and can be excreted. Deficiency of an enzyme in the pathway causes a urea cycle disorder (UCD).

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

The Urea Cycle is the metabolic pathway that transforms nitrogen from peripheral (muscle) and enteral sources (protein ingestion) into urea that is water soluble and can be excreted. Deficiency of an enzyme in the pathway causes a urea cycle disorder (UCD). Examples of UCDs include carabmyl phosphate synthetase I deficiency, ornithine transcarbamylase deficiency or arginase deficiency amongst others. All UCDs except for arginase deficiency, result in hyperammonaemia and life-threatening metabolic decompensations in infancy. If the patient survives, there is usually a severe neurologic injury. The inheritance of the UCDs is autosomal recessive except for ornithine transcarbamylase (OTC) deficiency which is X-linked.
The Igenomix Urea Cycle Disorder Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Urea Cycle Disorder Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations during the newborn period:
- Decreased level of consciousness
- Altered mental status
- Abnormal motor function
- Seizures
- Vomiting
- Poor feeding
- Diarrhea
- Nausea
- Constipation
- Somnolence
- Inability to maintain body temperature
- Hyperammonemia and hyperventilation
- Lethargy
- Coma

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation in the form of rehydration and maintenance of good urine output without overhydration, remove nitrogen (ammonia) from the body with medications and/or haemodialysis, decrease protein intake and minimize catabolism, stimulate anabolism and uptake of nitrogen precursors by muscle.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ACADM*	Acyl-Coa Dehydrogenase Deficiency	AR	99.98	181 of 181
*ACADS*	Acyl-Coa Dehydrogenase Deficiency	AR	100	84 of 84
*ACADVL*	Acyl-Coa Dehydrogenase Deficiency	AR	100	329 of 329
*ALDH18A1*	Cutis Laxa, Mental Retardation, Spastic Paraplegia, De Barsy Syndrome	AD,AR	100	39 of 40
*ARG1*	Argininemia	AR	100	66 of 68
*ASL*	Argininosuccinic Aciduria	AR	100	170 of 170
*ASS1*	Citrullinemia	AR	100	150 of 153
*BCKDHA*	Maple Syrup Urine Disease	AR	98.41	96 of 97
*BCKDHB*	Maple Syrup Urine Disease	AR	99.99	122 of 123
*CA5A*	Carbonic Anhydrase VA Deficiency, Hyperammonemia	AR	100	5 of 6
*CPS1*	Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia	AR	100	274 of 278
*CPT1A*	Carnitine Palmitoyltransferase I Deficiency	AR	100	50 of 50
*CPT2*	Carnitine Palmitoyltransferase Ii Deficiency, Encephalopathy	AD,AR	99.99	116 of 116
*DBT*	Maple Syrup Urine Disease	AR	100	73 of 75
*DLD*	Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Dehydrogenase E3 Deficiency	AR	100	26 of 26
*ETFA*	Acyl-Coa Dehydrogenase Deficiency	AR	92.33	32 of 32
*ETFB*	Acyl-Coa Dehydrogenase Deficiency	AR	100	21 of 21
*ETFDH*	Acyl-Coa Dehydrogenase Deficiency	AR	100	221 of 222
*GLUD1*	Hyperinsulinemic Hypoglycemia, Hyperammonemia	AD	99.98	39 of 39
*GLUL*	Glutamine Deficiency	AR	100	4 of 4
*HADHA*	3-Hydroxyacyl- Coa Dehydrogenase Deficiency, Trifunctional Protein Deficiency, 3-Hydroxyacyl- Coa Dehydrogenase Deficiency	AR	100	75 of 75
*HADHB*	Trifunctional Protein Deficiency	AR	99.99	66 of 68
*HCFC1*	Methylmalonic Acidemia, Homocysteinemia, Intellectual Disability	X,XR,G	99.81	–
*HLCS*	Holocarboxylase Synthetase Deficiency	AR	100	47 of 47
*HMGCL*	3-Hydroxy- 3-Methylglutaric Aciduria	AR	100	54 of 54
*HMGCS2*	3-Hydroxy-3- Methylglutaryl- Coa Synthase- 2 Deficiency , 3-Hydroxy-3- Methylglutaryl- Coa Synthase Deficiency	AR	100	37 of 37
*IVD*	Isovaleric Acidemia	AR	100	105 of 105
*MCCC1*	3-Methylcrotonyl- Coa Carboxylase 1 Deficiency	AR	100	110 of 111
*MCCC2*	3-Methylcrotonyl- Coa Carboxylase Deficiency	AR	99.98	120 of 120
*MMAA*	Methylmalonic Aciduria	AR	99.98	77 of 77
*MMAB*	Methylmalonic Aciduria	AR	99.52	43 of 43
*MMACHC*	Methylmalonic Aciduria, Homocystinuria	AR	99.97	105 of 105
*MMADHC*	Methylmalonic Aciduria, Homocystinuria	AR	99.63	20 of 20
*MMUT*	Methylmalonic Aciduria, Methylmalonyl– Coa Mutase Deficiency, Methylmalonic Acidemia	AR	99.97	–
*NAGS*	N- Acetylglutamate Synthase Deficiency, Hyperammonemia	AR	99.45	48 of 50
*NBAS*	Infantile Liver Failure Syndrome, Short Stature, Optic Nerve Atrophy, Pelger- Huet Anomaly	AR	99.98	60 of 61
*OAT*	Ornithine Aminotransferase Deficiency, Gyrate Atrophy Of Choroid And Retina	AR	100	72 of 73
*OTC*	Ornithine Transcarbamylase Deficiency, Hyperammonemia	X,XR,G	99.97	–
PC	Pyruvate Carboxylase Deficiency	AR	100	48 of 48
*PCCA*	Propionic Acidemia	AR	100	137 of 137
*PCCB*	Propionic Acidemia	AR	99.95	136 of 138
*SLC22A5*	Carnitine Deficiency	AR	100	161 of 162
*SLC25A13*	Citrullinemia, Neonatal Intrahepatic Cholestasis	AR	100	108 of 110
*SLC25A15*	Hyperornithinemia, Hyperammonemia, Homocitrullinuria	AR	100	41 of 41
*SLC25A20*	Carnitine- Acylcarnitine Translocase Deficiency	AR	100	39 of 39
*SLC7A7*	Lysinuric Protein Intolerance	AR	100	61 of 61
*SUCLA2*	Mitochondrial Dna Depletion Syndrome, Methylmalonic Aciduria	AR	100	27 of 27
*SUCLG1*	Mitochondrial Dna Depletion Syndrome, Methylmalonic Aciduria	AR	100	34 of 34
*TMEM70*	Mitochondrial Complex V Deficiency, Encephalocardiomyopathy	AR	100	22 of 24
*UMPS*	Orotic Aciduria	AR	100	11 of 11

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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