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Summary
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 MC5DN2
ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY
614052
OMIM = Online Medalian Inheritance of Men
1194
8q21.11
rare
autosomal recessive
mutation in the TMEM70 gene
symptoms
apnea
ataxia
basal ganglia, changes, lesions, calcifications (MRI, CT)
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, hypertrophic
cataract
cerebellar atrophy or hypoplasia
cryptorchism
developmental delay
dysmorphism
early death
encephalopathy
failure to thrive
heart failure, cardiac failure
hepatomegaly (large liver)
hyperammonemia
hypospadia
hypotonia
inguinal hernia
intrauterine growth retardation
lactic acidosis
leukoencephalopathy
liver involvement or dysfunction
low birthweight (small for gestational age)
metabolic acidosis
microcephaly (<2 SD for age)
oligohydramnion (maternal)
onset, fetus
onset, infancy
onset, neonatal
psychomotor retardation
pulmonary hypertension
respiratory insufficiency
seizures
tubulopathy
umbilical hernia
laboratory finding
Lactic acid2.006.00 mmol/lblood
Alanine mmol/lplasma
3-Methylglutaconic acid mmol/mol Creaurine
Ammonia +€mol/lblood
Creatine kinase U/lserum
MRI, brain, abnormalities -
Ketone bodies +/+++ (during crisis)urine
Literature
Nicolaides N,Charmandari EChrousos syndrome: from molecular pathogenesis to therapeutic managementEur J Clin Invest455504-5142015
Cindik N,et al.Gaucher disease with communicating hydrocephalus and cardiac involvementClin Cardiol331E26-302010
Koer Y,Keskin M, Ba+ƒp-¦nar OSevere cardiac involvement in Gaucher type IIIC: a case report and review of the literatureCardiol Young2771426-14292017
Charmandari E,Kino T, Chrousos GP.Primary generalized familial and sporadic glucocorticoid resistance (Chrousos syndrome) and hypersensitivityEndocr Dev24067-852013
Nitschke Y,Rutsch FInherited Arterial Calcification Syndromes: Etiologies and Treatment ConceptsCurr Osteoporos Rep154255-2702017
Mireles SA,Seybold J, Williams GUndiagnosed type IIIc Gaucher disease in a child with aortic and mitral valve calcification: perioperative complications after cardiac surgeryJ Cardiothorac Vasc Anesth243471-4742010
Nicolaides N,et al.Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistanceHormones (Athens)15123-342016