Table 5. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Gastrointestinal (liver)	Liver function tests	Liver transaminases (ALT & AST), GGT, albumin, total & direct bilirubin, & coagulation profile (PT & PTT)
Liver ultrasound	To assess liver size, liver texture, & for presence of masses
Alpha fetoprotein level	To screen for hepatocellular carcinoma
Hepatology / liver transplantation consultations
Nutrition eval
Consultation w/gastroenterologist	If dysmotility is suspected
Neurologic	Consultation w/neurologist
Developmental eval	By developmental pediatrician
Brain MRI	To establish degree of CNS involvement; as a baseline for monitoring progression of neurologic disease
Nerve conduction velocity	To establish degree of peripheral nervous system involvement; as a baseline for monitoring progression of neurologic disease
Electroencephalogram	If seizures are suspected
Metabolic	Plasma glucose & lactate concentrations	To assess lactic acidosis & hypoglycemia
Renal	Urinalysis & urine amino acids	To assess for renal tubulopathy
Ocular	Ophthalmologic exam	To assess corneal sensation & possible corneal ulcers/scarring
Other	Consultation w/clinical geneticist &/or genetic counselor

System/Concern

Evaluation

Comment

Gastrointestinal (liver)

Liver function tests

Liver transaminases (ALT & AST), GGT, albumin, total & direct bilirubin, & coagulation profile (PT & PTT)

Liver ultrasound

To assess liver size, liver texture, & for presence of masses

Alpha fetoprotein level

To screen for hepatocellular carcinoma

Hepatology / liver transplantation consultations

Nutrition eval

Consultation w/gastroenterologist

If dysmotility is suspected

Neurologic

Consultation w/neurologist

Developmental eval

By developmental pediatrician

Brain MRI

To establish degree of CNS involvement; as a baseline for monitoring progression of neurologic disease

Nerve conduction velocity

To establish degree of peripheral nervous system involvement; as a baseline for monitoring progression of neurologic disease

Electroencephalogram

If seizures are suspected

Metabolic

Plasma glucose & lactate concentrations

To assess lactic acidosis & hypoglycemia

Renal

Urinalysis & urine amino acids

To assess for renal tubulopathy

Ocular

Ophthalmologic exam

To assess corneal sensation & possible corneal ulcers/scarring

Other

Consultation w/clinical geneticist &/or genetic counselor

From: MPV17-Related Mitochondrial DNA Maintenance Defect

GeneReviews^® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2024.

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