Glossary

Glossary

1
  • 17-hydroxyprogesterone (17-OHP)
2
  • 21-hydroxylase (21-OH)
  • 21-hydroxylase deficiency (21-OHD)
a
  • Acylcarnitine
  • Acylcarnitine Profile
  • Adrenal crisis
  • Adrenal glands
  • Adrenals
  • Affected family member
  • Aldosterone
  • Allele
  • Amino acid
  • Amino acid disorders (AAs)
  • Ammonia (NH3)
  • Amniocentesis
  • Androgens
  • Anemia
  • Antibodies
  • Antigens
  • Arginine (arg)
  • Aspartame
  • Asymptomatic
  • Ataxia
  • Atrophy
  • Autosomal dominant
  • Autosomal recessive
  • Autosome
b
  • B cells (also called B-lymphocytes)
  • Base pair
  • Benign
  • Betaine
  • Bicarbonate
  • Biochemical genetics doctor
  • Biopsy
  • Biotin
  • Blood relative
  • Bone age
  • Bone marrow
  • Bone marrow transplant
  • Branched-chain amino acids (BCAA)
  • Bronchioles
  • Bronchitis
c
  • Carbamazepine
  • Carbohydrate
  • Cardiologist
  • Cardiomyopathy
  • Carnitine uptake test
  • Carpal Tunnel Syndrome
  • Carrier
  • Cataracts
  • Cell
  • Cerebral infarct
  • Cerebral palsy (CP)
  • Chaperone therapy
  • Cheek swab
  • Chemotherapy
  • Chloride
  • Chorea
  • Choreoathetosis
  • Chorionic Villus Sampling (CVS)
  • Chromosome
  • Chronic
  • Cirrhosis
  • Citrulline
  • Clinical trial
  • Clitoris
  • Close relative
  • Coma
  • Complete blood count (CBC)
  • Computed tomography (CT)
  • Congenital
  • Contractures
  • Corneal Clouding
  • Cortisol
  • Cortisone
  • Cushing syndrome
  • Cyanocobalamin (CN-cbl)
  • Cystine (cys) (or L-cystine)
d
  • Dehydration
  • Deoxyribonucleic acid (DNA)
  • Detection
  • Dexamethasone
  • Dialysis
  • Dietician
  • Diphenylhydantoin
  • Distant Relative
  • Docosahexanoic acid (DHA)
  • Dystonia
e
  • Echocardiogram
  • Eczema
  • Electrocardiogram
  • Endocrinologist
  • Enzyme
  • Enzyme Replacement Therapy
f
  • Fallo ovariano prematuro
  • False negative
  • False positive
  • Family medical history
  • Fat
  • Fatigue
  • Fatty acid oxidation
  • Fatty acid oxidation disorders (FAODs)
  • Fatty acid oxidation probe
  • Fatty acids
  • Ferritin
  • Fetal blood sampling
  • Fetal echocardiogram
  • Fetal ultrasound
  • First-degree relative
  • Florinef (Fludrocortisone)
  • Flow cytometry (FCM)
  • Folic Acid
  • Fontanel
g
  • Gabapentin
  • Galactose
  • Galactose-1-phosphate uridyl transferase (GALT)
  • Gallstones
  • Gastroenterologist
  • Gene
  • Gene therapy
  • Genetic
  • Genetic code
  • Genetic counseling
  • Genetic counselor
  • Genetic map
  • Genetic marker
  • Genetic metabolic specialist
  • Geneticist
  • Genitals
  • Genome
  • Genomic DNA
  • Glaucoma
  • Glucose
  • Glutaric acid
  • Glycine (gly)
  • Glycogen
  • Glycogen Storage Disorder
  • Goiter
  • Growth Plates
h
  • Hematologist
  • Hematopoeitic Stem Cell Transplant
  • Hemoglobin
  • Hereditary
  • Homocystine (hcy)
  • Hormona
  • Hormona estimulante de la tiroides
  • Hormone
  • Hydrocephalus
  • Hydrocortisone
  • Hydrops fetalis
  • Hydroxocobalamin
  • Hydroxylysine
  • Hyperactivity
  • Hyperplasia
  • Hypertonia
  • Hypoglycemia
  • Hypoplastic left heart syndrome
  • Hypothyroidism
  • Hypotonia
i
  • Immune globulin
  • Immune system
  • Immunologist
  • In vitro fertilization (IVF)
  • Infectious disease specialist
  • Influenza
  • Informed consent
  • Inguinal hernia
  • Inherit
  • Insulin
  • Iodine
  • Iron
  • Isoleucine (ile)
  • IV (Intravenous)
j
  • Jaundice
k
  • Karyotype
  • Ketones
l
  • L-Carnitine
  • L-thyroxine (levothyroxine)
  • Labia
  • Lens dislocation
  • Lethargy
  • Leucine (leu)
  • Long-chain fatty acids (LCFA)
  • Lymphocytes
  • Lysine (lys)
  • Lysosomal Storage Disorder
  • Lysosome
m
  • Magnetic Resonance Imaging (MRI)
  • Maternal
  • Maternal PKU syndrome
  • Measles
  • Meconium ileus
  • Medical geneticist
  • Medical release form
  • Medium chain triglyceride oil (MCT oil)
  • Medium-chain fatty acids (MCFA)
  • Metabolic acidosis
  • Metabolic crisis
  • Metabolic disorder
  • Metabolic doctor
  • Metabolic Genetic Specialist
  • Metabolism
  • Methionine (met)
  • Methylmalonic acid
  • Microcephaly
  • Mitochondria
  • Motor control
  • Motor neurons
  • Muscle tone
  • Muscle tone
  • Mutation
  • Myxedema
n
  • Nasal polyps
  • Neurologic crises
  • Neurologist
  • Newborn Metabolic Screening
  • Newborn Screening
  • Nitisinone
  • Nitrogen
  • Nodular cirrhosis
  • Nonsymptomatic
o
  • Organic acid disorders (OA)
  • Organic acids
  • Osteoporosis
  • Overriding aorta
  • Oxygen saturation
p
  • Pancreas
  • Pancreatic insufficiency
  • Pancreatitis
  • Pediatric cardiologists
  • Pedigree
  • Penicillin
  • Peroxisomal Disorders
  • Peroxisome
  • Phenylalanine (Phe)
  • Phenylketonuria (PKU)
  • Platelets
  • Pneumonia
  • Polycystic ovary syndrome (PCOS)
  • Polymorphism
  • Preimplantation genetic diagnosis
  • Premature ovarian failure (POF)
  • Primary immune deficiency disorders (PID)
  • Propionic acid
  • Protein
  • Pseudodeficiency
  • Psychiatric disorder
  • Psychosis
  • Pulmonary atresia (with intact septum)
  • Pulmonary stenosis
  • Pulmonologist
  • Pulse
  • Pulse oximetry
r
  • Red blood cells
  • Reflexes
  • Respiratory infections
  • Riboflavin
  • Rickets
  • Right ventricular hypertrophy
  • RSV vaccine (respiratory syncytial virus)
s
  • Scoliosis
  • Screening
  • Scrotum
  • Seizures
  • Sequencing
  • Shock
  • Short-chain fatty acids (SCFA)
  • Sibling
  • Sickle cell crisis
  • Sickle cell trait
  • Sleep Apnea
  • SMN protein
  • Spasticity
  • Spleen
  • Sporadic
  • Stroke
  • Substrate Reduction Therapy
  • Succinylacetone
  • Surveillance
  • Susceptibility
  • Syndrome
t
  • T-cell receptor excision circles (TREC)
  • T-cells (also called lymphocytes)
  • Tandem Mass Spectrometry
  • Tetralogy of Fallot
  • Thalassemias
  • Thiamine
  • This is one of the 20 methionines (meth)
  • Threonine (thr)
  • Thymus gland
  • Thyroid stimulating hormone (TSH)
  • Thyroid uptake and scan
  • Thyroxine
  • Total anomalous pulmonary venous return
  • Tracking
  • Transposition of the great arteries
  • Tremors
  • Tricuspid atresia
  • Truncated
  • Truncus arteriosus
  • Tryptophan (trp)
  • Tyrosine (tyr)
u
  • Ulcer
  • Ultrasound
  • Umbilical hernia
  • Urea
  • Urea cycle disorder (UCD)
v
  • Valine (val)
  • Variants
  • Vas deferens
  • Ventricular septum defect
  • Very long-chain fatty acids
  • Virilization
  • Vitamin B12
  • Vitamin B6
  • Vitamin D
w
  • Wild type
x
  • X chromosome
  • X-Linked
  • X-linked recessive
y
  • Y chromosome