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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Mitochondrial Diseases (D028361)
..Starting node ..Cytochrome-c Oxidase Deficiency (D030401)
Child Nodes:
........Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency (C565784)
........Leigh syndrome , French Canadian type (C537004)
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Ataxia Neuropathy Spectrum (C579922)
..Bjornstad syndrome (C537633)
..Carbamoyl-Phosphate Synthase I Deficiency Disease (D020165)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)
..Childhood Myocerebrohepatopathy Spectrum (C579990)
..Coenzyme Q10 Deficiency (C564403)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Cowden-Like Syndrome (C567337)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deoxyguanosine Kinase Deficiency (C580039)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Friedreich Ataxia (D005621) 6
..Hypermetabolism due to Defect in Mitochondria (C565498)
..Hypomyelination, Global Cerebral (C567847)
..Hypotonia-Cystinuria Syndrome (C564710)
..Kearns-Sayre Syndrome (D007625) 1
..Leigh Disease (D007888) 12
..Leukodystrophy, Hypomyelinating, 4 (C567390)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Mitochondrial complex I deficiency (C537475)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Complex III Deficiency (C565128)
..MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Mitochondrial Phosphate Carrier Deficiency (C563665)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Mitochondrial Dysfunctions Syndrome (C565304)
..MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Navajo neurohepatopathy (C538344) 1
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Autosomal Dominant (D029241)
..Optic Atrophy, Hereditary, Leber (D029242) 1
..Parkinson Disease, Mitochondrial (C564015)
..Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)
..Progressive External Ophthalmoplegia With Hypogonadism (C563576)
..Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)
..Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Sarcosinemia (C537236)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Succinate-Coa Ligase Deficiency (C580473)
..VDAC Deficiency (C565767)
..VLCAD deficiency (C536353)
..Wolfram Syndrome 2 (C565733)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2952

Name:

Cytochrome-c Oxidase Deficiency

Definition:

A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)

Alternative IDs:

OMIM:220110

ParentIDs:

MESH:D008661|MESH:D028361

TreeNumbers:

C16.320.565.240 |C18.452.660.195

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D030401
MeSH: D030401
OMIM: 220110;

Genes: APOPT1; COA5; COX10; COX14; COX20; COX6B1; FASTKD2; PET100; TACO1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003355	Aminoaciduria
3	HP:0001903	Anemia
4	HP:0001251	Ataxia
5	HP:0003688	Cytochrome C oxidase-negative muscle fibers
6	HP:0001410	Decreased liver function
7	HP:0003546	Exercise intolerance
8	HP:0002875	Exertional dyspnea
9	HP:0001508	Failure to thrive
10	HP:0001290	Generalized hypotonia
11	HP:0001263	Global developmental delay
12	HP:0003076	Glycosuria
13	HP:0002240	Hepatomegaly
14	HP:0001425	Heterogeneous
15	HP:0003109	Hyperphosphaturia
16	HP:0001639	Hypertrophic cardiomyopathy
17	HP:0001252	Hypotonia
18	HP:0002490	Increased CSF lactate
19	HP:0006565	Increased hepatocellular lipid droplets
20	HP:0012240	Increased intramyocellular lipid droplets
21	HP:0002151	Increased serum lactate
22	HP:0001249	Intellectual disability
23	HP:0003128	Lactic acidosis
24	HP:0001427	Mitochondrial inheritance
25	HP:0001270	Motor delay
26	HP:0000648	Optic atrophy
27	HP:0000580	Pigmentary retinopathy
28	HP:0000093	Proteinuria
29	HP:0000508	Ptosis
30	HP:0001994	Renal Fanconi syndrome
31	HP:0000124	Renal tubular dysfunction
32	HP:0002098	Respiratory distress
33	HP:0002747	Respiratory insufficiency due to muscle weakness
34	HP:0001250	Seizure
35	HP:0000407	Sensorineural hearing impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001312871.1(COX20):c.154A>C (p.Thr52Pro)	-1	-	Pathogenic	587777004	RCV000049300;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	1	245005357	245005357	NM_001312871.1:c.154A>C	NP_001299800.1:p.Thr52Pro		OMIM Allelic Variant:614698.0001	C0268237 220110 Cytochrome-c oxidase deficiency
NM_032374.4(APOPT1):c.163-1G>A	84334	APOPT1	Pathogenic	587777785	RCV000144486;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	14	104037959	104037959	NM_032374.4:c.163-1G>A		14:g.104037959G>A	OMIM Allelic Variant:616003.0002	C0268237 220110 Cytochrome-c oxidase deficiency
NM_032374.4(APOPT1):c.235C>T (p.Arg79Ter)	84334	APOPT1	Pathogenic	587777784	RCV000144485;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	14	104038032	104038032	NM_032374.4:c.235C>T	NP_115750.2:p.Arg79Ter	NC_000014.8:g.104038032C>T	OMIM Allelic Variant:616003.0001	C0268237 220110 Cytochrome-c oxidase deficiency
NM_032374.4(APOPT1):c.353T>C (p.Phe118Ser)	84334	APOPT1	Pathogenic	587777786	RCV000144487;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	14	104038150	104038150	NM_032374.4:c.353T>C	NP_115750.2:p.Phe118Ser	14:g.104038150T>C	OMIM Allelic Variant:616003.0003	C0268237 220110 Cytochrome-c oxidase deficiency
NM_032374.4(APOPT1):c.370_372delGAA (p.Glu124del)	84334	APOPT1	Pathogenic	587777787	RCV000144488;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	14	104040453	104040455	NM_032374.4:c.370_372delGAA	NP_115750.2:p.Glu124del		OMIM Allelic Variant:616003.0004	C0268237 220110 Cytochrome-c oxidase deficiency
NM_001040431.2(COA3):c.215A>G (p.Tyr72Cys)	28958	COA3	Pathogenic	139877390	RCV000170599;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	17	40950185	40950185	NM_001040431.2:c.215A>G	NP_001035521.1:p.Tyr72Cys	NC_000017.10:g.40950185T>C	OMIM Allelic Variant:614775.0002	C0268237 220110 Cytochrome-c oxidase deficiency
NM_001040431.2(COA3):c.199dupC (p.Leu67Profs)	28958	COA3	Pathogenic	757472611	RCV000170598;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	17	40950501	40950501	NM_001040431.2:c.199dupC	NP_001035521.1:p.Leu67Profs	NC_000017.10:g.40950501dupG	OMIM Allelic Variant:614775.0001	C0268237 220110 Cytochrome-c oxidase deficiency
NM_001303.3(COX10):c.587C>A (p.Thr196Lys)	1352	COX10	Pathogenic	104894555	RCV000007958;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	17	14005522	14005522	NM_001303.3:c.587C>A	NP_001294.2:p.Thr196Lys	NC_000017.10:g.14005522C>A	OMIM Allelic Variant:602125.0002	C0268237 220110 Cytochrome-c oxidase deficiency
NM_001303.3(COX10):c.612C>A (p.Asn204Lys)	1352	COX10	Pathogenic	104894560	RCV000007956;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	17	14005547	14005547	NM_001303.3:c.612C>A	NP_001294.2:p.Asn204Lys	NC_000017.10:g.14005547C>A	OMIM Allelic Variant:602125.0001	C0268237 220110 Cytochrome-c oxidase deficiency
NM_001303.3(COX10):c.674C>T (p.Pro225Leu)	1352	COX10	Pathogenic	104894556	RCV000007959;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	17	14063243	14063243	NM_001303.3:c.674C>T	NP_001294.2:p.Pro225Leu	NC_000017.10:g.14063243C>T	OMIM Allelic Variant:602125.0003	C0268237 220110 Cytochrome-c oxidase deficiency
NM_001257133.1(COX14):c.57G>A (p.Met19Ile)	84987	COX14	Pathogenic	587776904	RCV000024195;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	12	50513883	50513883	NM_001257133.1:c.57G>A	NP_001244062.1:p.Met19Ile	12:g.50513883G>A	OMIM Allelic Variant:614478.0001	C0268237 220110 Cytochrome-c oxidase deficiency
NM_001863.4(COX6B1):c.58C>T (p.Arg20Cys)	1340	COX6B1	Pathogenic	778740017	RCV000201789;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	19	36142203	36142203	NM_001863.4:c.58C>T	NP_001854.1:p.Arg20Cys	NC_000019.9:g.36142203C>T	OMIM Allelic Variant:124089.0002	C0268237 220110 Cytochrome-c oxidase deficiency
NM_001863.4(COX6B1):c.59G>A (p.Arg20His)	1340	COX6B1	Pathogenic	121909602	RCV000018371;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	19	36142204	36142204	NM_001863.4:c.59G>A	NP_001854.1:p.Arg20His	NC_000019.9:g.36142204G>A	OMIM Allelic Variant:124089.0001	C0268237 220110 Cytochrome-c oxidase deficiency
NM_004074.2(COX8A):c.115-1G>C	1351	COX8A	Pathogenic	869025575	RCV000208577;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	11	63743696	63743696	NM_004074.2:c.115-1G>C		NC_000011.9:g.63743696G>C	OMIM Allelic Variant:123870.0001	C0268237 220110 Cytochrome-c oxidase deficiency
NM_001136194.1(FASTKD2):c.1294C>T (p.Arg432Ter)	22868	FASTKD2	Pathogenic	118203917	RCV000000673;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	2	207638988	207638988	NM_001136194.1:c.1294C>T	NP_001129666.1:p.Arg432Ter	NC_000002.11:g.207638988C>T	OMIM Allelic Variant:612322.0001	C0268237 220110 Cytochrome-c oxidase deficiency
m.6480G>A	4512	MT-CO1	Pathogenic	199476128	RCV000010304;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	M	6480	6480	-	-	NC_012920.1:m.6480G>A	OMIM Allelic Variant:516030.0004	C0268237 220110 Cytochrome-c oxidase deficiency
m.6930G>A	4512	MT-CO1	Pathogenic	28679680	RCV000010306;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	M	6930	6930	-	-	NC_012920.1:m.6930G>A	OMIM Allelic Variant:516030.0006	C0268237 220110 Cytochrome-c oxidase deficiency
m.7587T>C	4513	MT-CO2	Pathogenic	199474825	RCV000010294;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	M	7587	7587	-	-	NC_012920.1:m.7587T>C	OMIM Allelic Variant:516040.0001	C0268237 220110 Cytochrome-c oxidase deficiency
m.7671T>A	4513	MT-CO2	Pathogenic	199474827	RCV000010296;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	M	7671	7671	-	-	NC_012920.1:m.7671T>A	OMIM Allelic Variant:516040.0003	C0268237 220110 Cytochrome-c oxidase deficiency
m.7896G>A	4513	MT-CO2	Pathogenic	199474829	RCV000010298;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	M	7896	7896	-	-	NC_012920.1:m.7896G>A	OMIM Allelic Variant:516040.0005	C0268237 220110 Cytochrome-c oxidase deficiency
m.8042_8043delAT	4513	MT-CO2	Pathogenic	199474828	RCV000010297;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	M	8042	8043	-	-	NC_012920.1:m.8042_8043delAT	OMIM Allelic Variant:516040.0004	C0268237 220110 Cytochrome-c oxidase deficiency
m.9379G>A	4514	MT-CO3	Pathogenic	267606615	RCV000010293;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	M	9379	9379	-	-	NC_012920.1:m.9379G>A	OMIM Allelic Variant:516050.0006	C0268237 220110 Cytochrome-c oxidase deficiency
m.9487_9501delTCGCAGGATTTTTCT	4514	MT-CO3	Pathogenic	267606612	RCV000010289; RCV000010290;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000; MedGen:C4017626	M	9487	9501	-	-	NC_012920.1:m.9487_9501delTCGCAGGATTTTTCT	OMIM Allelic Variant:516050.0003	C0268237 220110 Cytochrome-c oxidase deficiency; C4017626 Mitochondrial complex IV deficiency with recurrent myoglobinuria
m.9537dupC	4514	MT-CO3	Pathogenic	267606614	RCV000010292; RCV000144008;	N	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	M	9537	9537	-	-	NC_012920.1:m.9537dupC	OMIM Allelic Variant:516050.0005	C0268237 220110 Cytochrome-c oxidase deficiency; C0023264 256000 Leigh syndrome
m.9952G>A	4514	MT-CO3	Pathogenic	267606613	RCV000010291;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	M	9952	9952	-	-	NC_012920.1:m.9952G>A	OMIM Allelic Variant:516050.0004	C0268237 220110 Cytochrome-c oxidase deficiency
m.3243A>G	4567	MT-TL1	Pathogenic	199474657	RCV000010211; RCV000143997; RCV000022901; RCV000022902; RCV000010206; RCV000192054; RCV000032997; RCV000010208; RCV000010209; RCV000010210;	Y	MedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0152164,OMIM:500007,SNOMED CT:18773000; MedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C0162672,OMIM:545000,ORPHA:551; MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000; MedG	M	3243	3243	-	-	NC_012920.1:m.3243A>G	OMIM Allelic Variant:590050.0001	C0152164 500007 Cyclical vomiting syndrome; C0268237 220110 Cytochrome-c oxidase deficiency; C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C0023264 256000 Leigh syndrome; C0162672 545000 Myoclonus with epilepsy with ragge
m.5728T>C	4570	MT-TN	Pathogenic	199476132	RCV000010247; RCV000010248;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000; MedGen:C1838979,OMIM:252010	M	5728	5728	-	-	NC_012920.1:m.5728T>C	OMIM Allelic Variant:590010.0003	C0268237 220110 Cytochrome-c oxidase deficiency; C1838979 252010 Mitochondrial complex I deficiency
NM_001171155.1(PET100):c.3G>C (p.Met1Ile)	100131801	PET100	Pathogenic	587777839	RCV000111466;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	19	7694722	7694722	NM_001171155.1:c.3G>C	NP_001164626.1:p.Met1Ile	19:g.7694722G>C	OMIM Allelic Variant:614770.0001	C0268237 220110 Cytochrome-c oxidase deficiency
NM_001171155.1(PET100):c.142C>T (p.Gln48Ter)	100131801	PET100	Pathogenic	587779779	RCV000144455;	N	Human Phenotype Ontology:HP:0004902,MedGen:CN004345; MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	19	7696362	7696362	NM_001171155.1:c.142C>T	NP_001164626.1:p.Gln48Ter	NC_000019.9:g.7696362C>T	-	CN004345 Congenital lactic acidosis; C0268237 220110 Cytochrome-c oxidase deficiency
NM_004589.3(SCO1):c.521C>T (p.Pro174Leu)	6341	SCO1	Pathogenic	104894630	RCV000006555;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	17	10596122	10596122	NM_004589.3:c.521C>T	NP_004580.1:p.Pro174Leu	NC_000017.10:g.10596122G>A	OMIM Allelic Variant:603644.0002	C0268237 220110 Cytochrome-c oxidase deficiency
NM_004589.3(SCO1):c.394G>A (p.Gly132Ser)	6341	SCO1	Pathogenic	587777220	RCV000106300;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	17	10596249	10596249	NM_004589.3:c.394G>A	NP_004580.1:p.Gly132Ser	NC_000017.10:g.10596249C>T	OMIM Allelic Variant:603644.0003	C0268237 220110 Cytochrome-c oxidase deficiency
NM_004589.3(SCO1):c.363_364delGA (p.Lys122Valfs)	6341	SCO1	Pathogenic	587776629	RCV000006554;	N	MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000	17	10599058	10599059	NM_004589.3:c.363_364delGA	NP_004580.1:p.Lys122Valfs		OMIM Allelic Variant:603644.0001	C0268237 220110 Cytochrome-c oxidase deficiency