MITOCHONDRIAL DNA DEPLETION SYNDROME 3

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 3
Synonym	DEOXYGUANOSINE KINASE DEFICIENCY; MTDPS3
OMIM	251880 OMIM = Online Mendelian Inheritance of Men
Orphanet	279934
Protein (UniProt)	Deoxyguanosine kinase, mitochondrial
Gene locus	2p13.1
ICD
Summary	rare autosomal recessive mutation in the DGUOK gene
Laboratory findings	alpha-Fetoprotein inc (serum) L-Tyrosine inc (plasma) Sialotransferrins (isoelectrofocussing) inc (serum) Succinylacetone normal (urine) gamma-Glutamyl transferase (GGT) inc (plasma) L-Cystathionine n/i (urine) L-Lactic acid inc (cerebrospinal fluid) Transaminases (ASAT/ALAT) inc (serum) Creatine kinase inc (serum) D-Glucose normal/dec (plasma) Dicarboxylic acids inc (urine) L-Lactic acid inc (blood) Lactate/Pyruvate ratio inc (blood)
Symptoms	cerebral atrophy cirrhosis or fibrosis of liver encephalopathy eye movements, abnormal failure to thrive hepatomegaly (large liver) hyperreflexia hypoglycemia hypothermia hypotonia jaundice liver involvement or dysfunction microcephaly (<2 SD for age) nystagmus seizures splenomegaly (large spleen) ascites ataxia cataract cholestasis early death edema feeding difficulties, poor feeding growth retardation, poor growth lactic acidosis liver failure liver steatosis metabolic acidosis muscle weakness myoclonus myopathy, ragged red fibers onset, infancy onset, neonatal peripheral neuropathy portal hypertension sudden death