Holocarboxylase Synthetase Deficiency

Description

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

Clinical Features

Top most frequent phenotypes and symptoms related to Holocarboxylase Synthetase Deficiency

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay
  • Muscular hypotonia
  • Respiratory distress
  • Vomiting
  • Hypertonia
  • Thrombocytopenia

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available HOLOCARBOXYLASE SYNTHETASE DEFICIENCY have a estimated birth prevalence of 0.5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Holocarboxylase Synthetase Deficiency Is also known as multiple carboxylase deficiency, neonatal form, hlcs deficiency, neonatal multiple carboxylase deficiency, multiple carboxylase deficiency, early onset, early-onset multiple carboxylase deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Holocarboxylase Synthetase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HLCS Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

HLCS
Specificity
100 %
Genes
100 %
HLCS Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HLCS
Specificity
100 %
Genes
100 %
HLCS Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HLCS
Specificity
100 %
Genes
100 %
HLCS Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HLCS
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Holocarboxylase Synthetase Deficiency - HLCS Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

HLCS
Specificity
100 %
Genes
100 %
Holocarboxylase Synthetase Deficiency - HLCS Del/Dup Analysis.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

HLCS
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %

You can get up to 38 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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