Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

Human molecular genetics - 15 Sept 2014

Houten Sander M, Denis Simone, Te Brinke Heleen, Jongejan Aldo, van Kampen Antoine H C, Bradley Edward J, Baas Frank, Hennekam Raoul C M, Millington David S, Young Sarah P, Frazier Dianne M, Gucsavas-Calikoglu Muge, Wanders Ronald J A

Abstract excerpt

Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. The molecular basis of this condition is currently unknown. We describe a new case with failure to thrive, developmental delay, lactic acidosis and se...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fibroblasts
Share to Mitochondrial Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Sequence Analysis, DNA

Share to Stress, Physiological

Source

Identifiers

PMID: 24847004
DOI: 10.1093/hmg/ddu218

Genes

NADK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24847004-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.PMID 24847004Read ↗

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.Semantic proximity Read ↗

Mouse models of <i>NADK2</i> deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiologySemantic proximity Read ↗

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.Semantic proximity Read ↗

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ DeficiencySemantic proximity Read ↗

Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.Semantic proximity Read ↗

Mitochondrial fatty acid synthesis is essential for coordinated energy transformationSemantic proximity Read ↗

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.Semantic proximity Read ↗

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.Semantic proximity Read ↗

Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.Semantic proximity Read ↗

Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.Semantic proximity Read ↗

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.Semantic proximity Read ↗

Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.