eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| galactosemia | ||||
| Disease ID | 10 |
|---|---|
| Disease | galactosemia |
| Definition | A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3) |
| Synonym | disorder galactosemia galactosaemia galactosaemia nos galactosaemia, nos galactose intolerance galactose intolerance, nos galactosemia (disorder) galactosemia (disorder) [ambiguous] galactosemia nos galactosemia nos (disorder) galactosemia, nos galactosemias galactosemias [disease/finding] |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0016952 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0011991 | diarrhea | 1 C0013421 | dystonia | 1 C0022354 | cholestatic jaundice | 1 C0013369 | infectious diarrhea | 1 C0086543 | cataracts | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:54) 60 | ACTB | 1.005 | DISEASES 55811 | ADCY10 | 2.31 | DISEASES 2334 | AFF2 | 1.243 | DISEASES 229 | ALDOB | 5.931 | DISEASES 85365 | ALG2 | 3.686 | DISEASES 249 | ALPL | 1.987 | DISEASES 250 | ALPP | 2.491 | DISEASES 54840 | APTX | 1.522 | DISEASES 522 | ATP5J | 1.699 | DISEASES 632 | BGLAP | 1.971 | DISEASES 825 | CAPN3 | 1.125 | DISEASES 28952 | CCDC22 | 2.377 | DISEASES 1012 | CDH13 | 1.013 | DISEASES 1268 | CNR1 | 1.069 | DISEASES 1415 | CRYBB2 | 2.066 | DISEASES 1491 | CTH | 1.233 | DISEASES 5476 | CTSA | 1.867 | DISEASES 1730 | DIAPH2 | 3.122 | DISEASES 2272 | FHIT | 1.444 | DISEASES 2332 | FMR1 | 1.545 | DISEASES 2582 | GALE | 5.42 | DISEASES 2585 | GALK2 | 2.89 | DISEASES 85569 | GALP | 2.007 | DISEASES 2592 | GALT | 7.88 | DISEASES 26301 | GBGT1 | 4.028 | DISEASES 50628 | GEMIN4 | 2.187 | DISEASES 2701 | GJA4 | 1.532 | DISEASES 3033 | HADH | 2.822 | DISEASES 3030 | HADHA | 1.562 | DISEASES 3039 | HBA1 | 1.791 | DISEASES 3347 | HTN3 | 1.359 | DISEASES 10581 | IFITM2 | 1.516 | DISEASES 3486 | IGFBP3 | 1.311 | DISEASES 10989 | IMMT | 1.525 | DISEASES 3963 | LGALS7 | 1.94 | DISEASES 3988 | LIPA | 1.183 | DISEASES 190 | NR0B1 | 2.409 | DISEASES 5053 | PAH | 2.923 | DISEASES 5236 | PGM1 | 2.187 | DISEASES 5498 | PPOX | 1.524 | DISEASES 10165 | SLC25A13 | 4.556 | DISEASES 51312 | SLC25A37 | 2.419 | DISEASES 6514 | SLC2A2 | 3.193 | DISEASES 8802 | SUCLG1 | 2.069 | DISEASES 9015 | TAF1A | 3.335 | DISEASES 6888 | TALDO1 | 2.614 | DISEASES 202018 | TAPT1 | 3.764 | DISEASES 6942 | TCF20 | 1.855 | DISEASES 7018 | TF | 2.363 | DISEASES 6675 | UAP1 | 2.459 | DISEASES 7328 | UBE2H | 2.841 | DISEASES 7360 | UGP2 | 4.248 | DISEASES 83889 | WDR87 | 3.714 | DISEASES 9278 | ZBTB22 | 1.378 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 10 |
|---|---|
| Disease | galactosemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:47) HP:0000044 | Hypogonadotrophic hypogonadism HP:0001263 | Global developmental delay HP:0002240 | Enlarged liver HP:0000518 | Cataract HP:0100543 | Cognitive impairment HP:0100806 | Sepsis HP:0001260 | Dysarthria HP:0000083 | Renal insufficiency HP:0001251 | Ataxia HP:0002014 | Diarrhea HP:0001254 | Lethargy HP:0002167 | Neurological speech impairment HP:0004918 | Hyperchloremic metabolic acidosis HP:0001531 | Failure to thrive in infancy HP:0001943 | Hypoglycemia HP:0012023 | Galactosuria HP:0001394 | Hepatic cirrhosis HP:0002017 | Nausea and vomiting HP:0000952 | Jaundice HP:0001541 | Ascites HP:0001249 | Mental retardation HP:0012024 | Hypergalactosemia HP:0001510 | Growth delay HP:0001878 | Hemolytic anemia HP:0008872 | Feeding difficulties in infancy HP:0001250 | Seizures HP:0001942 | Metabolic acidosis HP:0010741 | Edema of the lower limbs HP:0008209 | Premature ovarian failure HP:0001399 | Hepatic failure HP:0001878 | Haemolytic anaemia HP:0001608 | Abnormality of the voice HP:0001410 | Decreased liver function HP:0000252 | Microcephaly HP:0003355 | Aminoaciduria HP:0000939 | Osteoporosis HP:0001508 | Weight faltering HP:0000815 | Primary hypogonadism HP:0002240 | Hepatomegaly HP:0001939 | Abnormality of metabolism/homeostasis HP:0001249 | Intellectual disability HP:0011098 | Speech apraxia HP:0000505 | Visual impairment HP:0001928 | Abnormality of coagulation HP:0001337 | Tremor HP:0001252 | Muscular hypotonia HP:0002013 | Emesis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0000952 | Yellow skin | 1 HP:0001337 | Tremor | 1 HP:0001332 | Dystonia | 1 HP:0002014 | Diarrhea | 1 HP:0100806 | Sepsis | 1 HP:0000518 | Cataract | 1 HP:0004349 | Reduced bone mineral density | 1 HP:0002121 | Petit mal seizures | 1 HP:0001250 | Seizures | 1 |
| Disease ID | 10 |
|---|---|
| Disease | galactosemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:18) C2697388 | cystathioninuria C2364324 | increased intracranial pressure C2203646 | jaundice C1962983 | cataract C1623038 | cirrhosis C1415538 | hypergonadotropic hypogonadism C0747102 | ovarian failure C0268306 | unconjugated hyperbilirubinemia C0086543 | cataracts C0086367 | resistant ovary syndrome C0085605 | liver failure C0037822 | speech disorders C0036690 | septicemia C0033845 | pseudotumor cerebri C0019080 | hemorrhage C0008489 | chorea C0005750 | stasis syndrome C0003635 | dyspraxia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Manually Genotypes:3) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| GALT | del 5kb29,30 | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| GALT | Q188R31 | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| GALT | K285N | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs111033690 | 9323558 | 2592 | GALT | umls:C0016952 | BeFree | Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia. | 0.153061165 | 1997 | GALT | 9 | 34647858 | C | G,T |
| rs111033690 | 8551426 | 2592 | GALT | umls:C0016952 | BeFree | The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. | 0.153061165 | 1996 | GALT | 9 | 34647858 | C | G,T |
| rs111033690 | 11592823 | 2592 | GALT | umls:C0016952 | BeFree | This mutation was common in black patients with galactosemia and homozygotes (S135L/S135L) had no GALT activity or protein in their erythrocytes or lymphoblasts. | 0.153061165 | 2001 | GALT | 9 | 34647858 | C | G,T |
| rs111033781 | 10220154 | 2592 | GALT | umls:C0016952 | BeFree | Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online. | 0.153061165 | 1999 | GALT | 9 | 34649058 | T | A |
| rs2070074 | 22963887 | 2592 | GALT | umls:C0016952 | BeFree | The functionally neutral N314D variation in the GALT gene is associated with Duarte galactosemia and is widespread among various worldwide populations. | 0.153061165 | 2012 | GALT | 9 | 34649445 | A | G |
| rs2070074 | 9238673 | 2592 | GALT | umls:C0016952 | BeFree | Six out of thirteen (46%) daughters and two mothers of the remaining seven daughters (29%) were carriers for the N314D mutation of GALT associated with the Duarte variant of galactosaemia as compared to 16 out of 113 general population controls (14%) who possessed at least one N314D allele. | 0.153061165 | 1996 | GALT | 9 | 34649445 | A | G |
| rs2070074 | 9012409 | 2592 | GALT | umls:C0016952 | BeFree | We conclude that the codon change N314D in cis with the base-pair transition 1721C-->T produces the LA variant of galactosemia and that this nucleotide change increases GALT activity by increasing GALT protein abundance without increasing transcription or decreasing thermal lability. | 0.153061165 | 1997 | GALT | 9 | 34649445 | A | G |
| rs75391579 | 15689161 | 2592 | GALT | umls:C0016952 | BeFree | Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers. | 0.153061165 | 2005 | GALT | 9 | 34648170 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001942 | Metabolic acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0010741 | Edema of the lower limbs | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001410 | Decreased liver function | MP:0010398 | decreased liver glycogen level | less than the normal concentration of a readily converted carbohydrate reserve in liver |
| HP:0001928 | Abnormality of coagulation | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0001399 | Hepatic failure | MP:0006138 | congestive heart failure | cardiac output is insufficient to supply blood throughout the body, resulting in the accumulation of fluid in the lungs and other body tissues; it is related mainly to salt and water retention in the tissues rather than directly to reduced blood flow; blo |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0008209 | Premature ovarian failure | MP:0011125 | decreased primary ovarian follicle number | fewer than normal numbers of the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the folli |
| HP:0001878 | Hemolytic anemia | MP:0008388 | hypochromic microcytic anemia | hemoglobin deficiency resulting from a reduction in the concentration of hemoglobin in red cells, where the erythrocyte corpuscular volume is smaller than normal |
| HP:0004918 | Hyperchloremic metabolic acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
Mapped by homologous gene(Total Items:44) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001410 | Decreased liver function | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000044 | Hypogonadotrophic hypogonadism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001399 | Hepatic failure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001878 | Hemolytic anemia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010741 | Edema of the lower limbs | MP:0013258 | abnormal extracellular matrix morphology | any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004918 | Hyperchloremic metabolic acidosis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012024 | Hypergalactosemia | MP:0004018 | abnormal galactose homeostasis | anomaly in the processes involved in the maintenance of an internal equilibrium of galactose in the fluids and tissues |
| HP:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001608 | Abnormality of the voice | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001939 | Abnormality of metabolism/homeostasis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0011098 | Speech apraxia | MP:0011092 | embryonic lethality, complete penetrance | death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14) |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001394 | Cirrhosis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0008209 | Premature ovarian failure | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0001942 | Metabolic acidosis | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001928 | Abnormality of coagulation | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000815 | Hypergonadotropic hypogonadism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012023 | Galactosuria | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| Disease ID | 10 |
|---|---|
| Disease | galactosemia |
| Case | (Waiting for update.) |