Table 2.

Clinical Manifestations of MPV17-Related Encephalohepatopathy

Clinical ManifestationsFrequency
Hepatic Liver dysfunction 196/96 (100%)
Liver failure 287/96 (91%)
Cholestasis70/96 (73%)
Hepatomegaly60/96 (63%)
Steatosis49/96 (51%)
Liver cirrhosis20/96 (21%)
Hepatocellular cancer 33/96 (3%)
Neurologic 4 Developmental delay 575/91 (82%)
Hypotonia67/91 (74%)
Microcephaly21/91 (23%)
Peripheral neuropathy 617/91 (19%)
Seizures9/91 (10%)
Dystonia4/91 (4%)
Ataxia3/91 (3%)
Abnormalities
on brain MRI 		White matter 727/71 (38%)
Brain stem signal6/71 (8%)
Basal ganglia signal6/71 (8%)
Gastrointestinal Failure to thrive 882/91 (90%)
Gastrointestinal dysmotility 930/91 (33%)
Feeding difficulties28/91 (31%)
Metabolic Lactic acidosis 1072/91 (79%)
Hypoglycemia 1155/91 (60%)
Other Renal tubulopathy9/91 (10%)
Nephrocalcinosis7/91 (8%)
Hypoparathyroidism4/91 (4%)
Retinopathy7/91 (8%)
Nystagmus6/91 (7%)
Corneal anesthesia & ulcers4/91 (4%)
1.

Liver dysfunction typically presents as elevated transaminases, jaundice, hyperbilirubinemia, and coagulopathy.

2.

Liver disease progresses to liver failure typically during infancy and early childhood.

3.

Identified between ages seven and 11 years [Karadimas et al 2006, El-Hattab et al 2010, Vilarinho et al 2014]

4.

The neurologic manifestations can be overlooked or underestimated in children with early onset of severe hepatic involvement.

5.

Some affected individuals present with psychomotor delays during early infancy, while others have normal development early in life followed by loss of motor and cognitive abilities later in infancy or early childhood.

6.

Peripheral neuropathy typically manifests in early childhood with muscle weakness and wasting, decreased reflexes, and loss of sensation in the hands and feet.

7.

Diffuse white matter abnormalities may resemble leukodystrophy or hypomyelination.

8.

Some children have normal growth, especially early in the course of the disease.

9.

May present as gastroesophageal reflux, recurrent vomiting, and/or diarrhea.

10.

Lactic acidosis is a biochemical finding with mild to moderate elevation of lactate (3-9 mmol/L).

11.

Hypoglycemia typically presents during the first six months of life and can be associated with lethargy, apnea, and/or seizures.

From: MPV17-Related Mitochondrial DNA Maintenance Defect

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