Table 4. [Treatment of Manifestations in Individuals with Deoxyguanosine Kinase Deficiency]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Hypotonia / Feeding issues	Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.	Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Developmental delay / Intellectual disability	See Developmental Delay / Intellectual Disability Management Issues.	For those w/neonatal multisystem disease
Hepatic disease / Nutrition	Mgmt per hepatologist & dietician w/experience in liver disease Formulas w/enriched medium-chain triglyceride content may provide better nutritional support for infants w/cholestasis than formulas w/predominantly long-chain triglycerides. ¹ Cornstarch may ↓ symptomatic hypoglycemia in those w/isolated hepatic disease. Fractional meals & enteral nutrition at night can result in good nutritional control. ² Supplementation w/fat-soluble vitamins & essential fatty acids. ¹	Liver transplantation in selected persons w/DGUOK deficiency is not contraindicated, esp in those w/o or w/minimal neurologic abnormalities. Liver transplantation was performed in 20 persons w/DGUOK deficiency at age 1-18 mos. Ten individuals (50%) died 1-21 mos after transplant from procedure-related complications (renal insufficiency, intraventricular hemorrhage, sepsis, pulmonary hypertension, or peritonitis). Among survivors, 8 presented w/good psychomotor development &/or mild hypotonia, 1 presented w/moderate cognitive impairment, & 1 presented w/severe psychomotor impairment. ³
Routine immunizations (incl influenza vaccine) for all persons w/DGUOK deficiency & their household contacts	Hepatic disease can be induced by viral illness.
Hepatocellular carcinoma	Treatment per oncologist
Family/Community	Ensure appropriate social work involvement to connect families w/local resources, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.	Ongoing assessment of need for palliative care involvement &/or home nursing Consider involvement in adaptive sports or Special Olympics.

Manifestation/Concern

Treatment

Considerations/Other

Hypotonia /
Feeding issues

Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.

Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia

Developmental delay /
Intellectual disability

See Developmental Delay / Intellectual Disability Management Issues.

For those w/neonatal multisystem disease

Hepatic disease /
Nutrition

Mgmt per hepatologist & dietician w/experience in liver disease

Formulas w/enriched medium-chain triglyceride content may provide better nutritional support for infants w/cholestasis than formulas w/predominantly long-chain triglycerides. ¹
Cornstarch may ↓ symptomatic hypoglycemia in those w/isolated hepatic disease.
Fractional meals & enteral nutrition at night can result in good nutritional control. ²
Supplementation w/fat-soluble vitamins & essential fatty acids. ¹

Liver transplantation in selected persons w/DGUOK deficiency is not contraindicated, esp in those w/o or w/minimal neurologic abnormalities.
Liver transplantation was performed in 20 persons w/DGUOK deficiency at age 1-18 mos. Ten individuals (50%) died 1-21 mos after transplant from procedure-related complications (renal insufficiency, intraventricular hemorrhage, sepsis, pulmonary hypertension, or peritonitis). Among survivors, 8 presented w/good psychomotor development &/or mild hypotonia, 1 presented w/moderate cognitive impairment, & 1 presented w/severe psychomotor impairment. ³

Routine immunizations (incl influenza vaccine) for all persons w/DGUOK deficiency & their household contacts

Hepatic disease can be induced by viral illness.

Hepatocellular carcinoma

Treatment per oncologist

Family/Community

Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

Ongoing assessment of need for palliative care involvement &/or home nursing
Consider involvement in adaptive sports or Special Olympics.

From: Deoxyguanosine Kinase Deficiency

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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