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

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.

Pediatrics - 1 Nov 2016

Tort Frederic, Ugarteburu Olatz, Torres Maria Angeles, García-Villoria Judit, Girós Marisa, Ruiz Angeles, Ribes Antonia

Abstract excerpt

We report the case of a 10-year-old Spanish girl with mutations in NADK2 Prenatal central nervous system abnormalities showed ventriculomegaly, colpocephaly, and hypoplasia of the corpus callosum. At birth, axial hypotonia, uncoordinated movements, microcephaly, and generalized cerebellar atrophy were detected. Metabolic investigations revealed high lysine, lactate, and pipecolic acid levels in blood and...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsies, Myoclonic
Share to Lactic Acid
Share to Lysine

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Nervous System Malformations

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Pyridoxal Phosphate

Share to Vitamin B Complex

Source

Identifiers

PMID: 27940755
DOI: 10.1542/peds.2015-4534

Genes

NADK2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.PMID 27940755Read ↗

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

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

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.Semantic proximity Read ↗

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

Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD+ deficiency.Semantic proximity Read ↗

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

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.Semantic proximity Read ↗

What we know that could influence future treatment of phenylketonuria.Semantic proximity Read ↗

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.Semantic proximity Read ↗

Down Regulation Of The Expression Of Mitochondrial Phosphopantetheinyl-Proteins In Pantothenate Kinase-Associated Neurodegeneration: Pathophysiological Consequences and Therapeutic PerspectivesSemantic proximity Read ↗

Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapesSemantic proximity Read ↗

NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment.Semantic proximity Read ↗

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