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

Genetic basis of alpha‐aminoadipic and alpha‐ketoadipic aciduria

9 Apr 2015

Abstract excerpt

Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. To date, DHTKD1 mutations have been reported in two alpha-aminoadipic and alpha-ketoadipic aciduria patients. We have now sequenced DHTKD1 in nine patients diagnosed with alpha-aminoadipic and alpha-ketoadipic aciduria as well as one patient with isolated alpha-aminoadipic...

Read the complete abstract on PubMed

Topics

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

Share to Metabolism and Genetic Disorders
Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25860818
DOI: 10.1007/s10545-015-9841-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic basis of alpha‐aminoadipic and alpha‐ketoadipic aciduriaPMID 25860818Read ↗

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

Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism.Semantic proximity Read ↗

DHTKD1 exon deletion associated with sporadic cerebellar ataxiaSemantic proximity Read ↗

DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.Semantic proximity Read ↗

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.Semantic proximity Read ↗

Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.Semantic proximity Read ↗

Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate ComplexSemantic proximity Read ↗

Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.Semantic proximity Read ↗

Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.Semantic proximity Read ↗

Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolismSemantic proximity Read ↗

Human mutations affecting branched chain alpha-ketoacid dehydrogenase.Semantic proximity Read ↗

Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.Semantic proximity Read ↗

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