This article highlights the phenotypic manifestations from a novel mutation in the C12orf65 gene and reviews the clinical presentation of the 5 other individuals reported to date who carry mutations in this gene. [collections.lib.utah.edu]

The first is the severe form, usually presented within the period of infancy and characterized by acute metabolic decompensation with a rapid deterioration, often presenting with CHF, severe hyperlactacidemia, and consequently early death. [frontiersin.org]

The first subgroup, with neonatal presentation, is characterized by cardiomyopathy and is frequently fatal in early life. The second subgroup presents in infancy, with hypoketosis and hypoglycaemia, and frequently mimics Reye-Syndrome [ 111, 112 ]. [bioscirep.org]

Seizures may be present at birth or within the first month of life. Edema of the feet, hands, and face are also present at birth. Cognitive deficits and motor delays are usually evident during infancy. [disorders.eyes.arizona.edu]

Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. {ECO:0000269 PubMed:25385316, ECO:0000269 PubMed:25629079}. [genecards.org]

• Hodgkin Lymphoma

  8q21.2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 CASK Xp11.4 FG syndrome 4 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 Mental retardation, with or without nystagmus 300422 Non-Hodgkin [institutobernabeu.com]

  Lymphoma, non-Hodgkin (3) RAD54L G:603615. Adenocarcinoma, colonic, somatic (3) RAD54L G:603615. Lymphoma, non-Hodgkin, somatic, 605027 (3) RAD54L G:603615. {Breast cancer, invasive ductal}, 114480 (3) RAD9A G:603761. . RAD9B G:608368. . [usegalaxy.org]

“Diagnostic Workup of Patients with Mitochondrial Diseases,” in Inherited Metabolic Diseases, eds G. F. Hoffmann, J. Zschocke, and W. L. Nyhan (Berlin: Springer), 521–535. [frontiersin.org]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Identification and discontinuation of any offending agents and treatment of known pathology should occur promptly. [emedicine.medscape.com]

Whichever the case, treatment of patients with combined OXPHOS CII/FAO defects has proved problematic, as supplementation with essential fatty acids results in metabolic crises [ 129 ]. [bioscirep.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]

[…] deletion Ataxia, Hypogonadism & Choroidal dystrophy: Multiple deletion Isolated Complex I deficit: Nuclear mutations Clinical features: General Nuclear mutations more common than mitochondrial Onset: Childhood; Mean = 4 to 5 months Male:Female = 3.5:1 Prognosis [neuromuscular.wustl.edu]

PMID: 18206410Free PMC Article Prognosis Koller A, Fazzini F, Lamina C, Rantner B, Kollerits B, Stadler M, Klein-Weigel P, Fraedrich G, Kronenberg F J Intern Med 2020 May;287(5):569-579. Epub 2020 Feb 9 doi: 10.1111/joim.13027. [ncbi.nlm.nih.gov]

VLCAD deficiency can be classified into three main subgroups based on age of onset, each of which correlates closely with clinical severity and prognosis. [bioscirep.org]

However, in many cases of type B lactic acidosis, occult tissue hypoperfusion is now recognized to accompany the primary etiology. Type B is divided into 3 subtypes based on underlying etiology. [emedicine.medscape.com]

Persistent head lag Poor eye contact Progressive neurologic deterioration Spasticity Abnormality of the respiratory system Respiratory failure Respiratory insufficiency Ear malformation Sensorineural hearing loss disorder Growth abnormality Failure to thrive Etiology [ncbi.nlm.nih.gov]

And the newborn’s phenotype (hyperlactacidemia and metabolic acidosis complicated with respiratory acidosis) is highly specific for a disease with a single genetic etiology (Table 1, PP4). [frontiersin.org]

Relevant External Links for NARS2 Genetic Association Database (GAD) NARS2 Human Genome Epidemiology (HuGE) Navigator NARS2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NARS2 No data available for Genatlas for NARS2 Gene Mutations of [genecards.org]

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 335: 1870, 2005. Article Google Scholar Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J. Adrenal insufficiency in Smith-Lemli-Opitz syndrome. [link.springer.com]

Pathophysiologic classification of lactic acidosis. Go to Acute Lactic Acidosis for complete information on this topic. Hyperlactatemia versus lactic acidosis The normal blood lactate concentration in unstressed patients is 0.5-1 mmol/L. [emedicine.medscape.com]

The 5-taurinomethyluridine (τm5U) modification, identified in mt-tRNALeu(UUR) and mt-tRNATrp, is required for accurate decoding of purine-ending codons and prevent misreading of pyrimidine-ending codons, thereby promoting efficient decoding of cognate [frontiersin.org]